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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Pediatric neurology, 2024-11, Vol.160, p.45-53
- Mignot, Cyril
- Littlejohn, Rebecca O.
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Peter Chang, Ta Chen
- D'Souza, Precilla
- Dasari, Surendra
- Dayal, Jyoti G.
- Dell'Angelica, Esteban C.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hadley, Don
- Hahn, Sihoun
- Halley, Meghan C.
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Izumi, Kosuke
- Jarvik, Gail P.
- Jayadev, Suman
- Jean-Marie, Orpa
- Kennedy, Jennifer
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Lanza, Ian R.
- Levitt, Roy
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Morava, Eva
- Nakano-Okuno, Mariko
- Newman, John H.
- Nickerson, Deborah
- Oglesbee, Devin
- Pallais, J. Carl
- Phillips, John A.
- Rosenwasser, Natalie
- Schedl, Timothy
- Shashi, Vandana
- Sisco, Kathy
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Sarret, Catherine
- Platzer, Konrad
- Fischer, Susann
- Granadillo, Jorge L.
- Schreiner, Elisabeth
2024
Volltextzugriff (PDF)
Genetics in medicine, 2024-11, Vol.26 (11), p.101218, Article 101218
- Wan, Jijun
- Adams, David R.
- Balasubramanyam, Ashok
- Bamshad, Michael
- Beck, Anita
- Behrens, Edward
- Bejerano, Gill
- Bellen, Hugo J.
- Bernstein, Jonathan A.
- Bonner, Devon
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Cassini, Thomas
- Chao, Hsiao-Tuan
- Chinn, Ivan
- Cogan, Joy D.
- Coggins, Matthew
- Cole, F. Sessions
- Dai, Hongzheng
- Davis, Joie
- Douine, Emilie D.
- Eckstein, David J.
- Emrick, Lisa T.
- Hadley, Don
- Halley, Meghan C.
- Hassey, Kelly
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Hutchison, Sarah
- Jean-Marie, Orpa
- Kaitryn, Emerald
- Kilich, Gonench
- Kobren, Shilpa N.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- Lanza, Ian R.
- LeBlanc, Kimberly
- Lee, Brendan H.
- Loo, Sandra K.
- MacRae, Calum A.
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Marth, Gabor
- McCauley, Jacob
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Novacic, Donna
- Oglesbee, Devin
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raper, Anna
- Raskind, Wendy
- Renteria, Genecee
- Rives, Lynette
- Rodan, Lance H.
- Rosenthal, Elizabeth
- Rossignol, Francis
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Scott, Daryl A.
- Shelkowitz, Emily
- Shin, Jimann
- Sisco, Kathy
- Smith, Edward C.
- Solomon, Ben
- Sullivan, Kathleen
- Sybert, Virginia
- Tarakad, Arjun
- Tekin, Mustafa
- Thorson, Willa
- Toro, Camilo
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Viskochil, Dave
- Walley, Nicole M.
- Wambach, Jennifer
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Saillour, Virginie
- Sacharow, Stephanie
- Kanca, Oguz
- Palmer, Christina G.S.
2024
Volltextzugriff (PDF)
Genetics in medicine, 2024-09, Vol.26 (9), p.101166, Article 101166
- Ugur, Berrak
- Zhang, Bo
- Feng, Wenjia
- Goddard, Pagé
- Kravets, Elijah
- Marwaha, Shruti
- Adams, David R.
- Andrews, Ashley
- Behrens, Edward
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bohnsack, John
- Botto, Lorenzo
- Boyd, Brenna
- Briere, Lauren C.
- Carrasquillo, Olveen
- Chanprasert, Sirisak
- Chinn, Ivan
- Coggins, Matthew
- Sessions Cole, F.
- Cope, Heidi
- Dasari, Surendra
- Dayal, Jyoti G.
- Dipple, Katrina
- Doherty, Daniel
- Dorrani, Naghmeh
- Doss, Argenia L.
- Earl, Dawn
- Ezell, Kimberly
- Fisher, Paul G.
- Gahl, William A.
- Glass, Ian
- Goddard, Page C.
- Halley, Meghan C.
- High, Frances
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Isasi, Rosario
- Izumi, Kosuke
- Jarvik, Gail P.
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Kozuira, Mary
- Lalani, Seema R.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Levitt, Roy
- Lewis, Richard A.
- Liu, Pengfei
- Liu, Xue Zhong
- Longo, Nicola
- Maas, Richard L.
- Manolio, Teri A.
- Mao, Rong
- Marom, Ronit
- Martin, Beth A.
- McCauley, Jacob
- McCray, Alexa T.
- Mefford, Heather
- Morava, Eva
- Moretti, Paolo
- Nakano-Okuno, Mariko
- Nelson, Stanley F.
- Neumann, Serena
- Nickerson, Deborah
- Palmer, Christina G.S.
- Parker, Neil H.
- Phillips, John A.
- Pusey Swerdzewski, Barbara N.
- Renteria, Genecee
- Rosenfeld, Jill A.
- Sacco, Ralph
- Schoch, Kelly
- Shin, Jimann
- Silverman, Edwin K.
- Sisco, Kathy
- Smith, Edward C.
- Solomon, Ben
- Sweetser, David A.
- Tran, Alyssa A.
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Zuchner, Stephan
- Worthey, Elizabeth A.
- Postlethwait, John
- Solnica-Krezel, Lila
2024
Volltextzugriff (PDF)
The Journal of experimental medicine, 2024-08, Vol.221 (8)
- Rael, Victoria E
- Yano, Julian A
- Huizar, John P
- Slayden, Leianna C
- Weiss, Madeleine A
- Turcotte, Elizabeth A
- Terry, Jacob M
- Zuo, Wenqi
- Thiffault, Isabelle
- Pastinen, Tomi
- Farrow, Emily G
- Jenkins, Janda L
- Becker, Mara L
- Wong, Stephen C
- Stevens, Anne M
- Otten, Catherine
- Allenspach, Eric J
- Bonner, Devon E
- Bernstein, Jonathan A
- Wheeler, Matthew T
- Saxton, Robert A
- Liu, Bo
- Majer, Olivia
- Barton, Gregory M
2024
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63556-n/a
- Forghani, Irman
- Adam, Margaret
- Azamian, Mahshid S.
- Baker, Eva
- Baldridge, Dustin
- Bale, Jim
- Beck, Anita
- Berg‐Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Chang, Ta Chen Peter
- Cogan, Joy D.
- Colley, Heather A.
- D'Souza, Precilla
- Dasari, Surendra
- Dell'Angelica, Esteban C.
- Duncan, Laura
- Eckstein, David J.
- Emrick, Lisa T.
- Eng, Christine M.
- Esteves, Cecilia
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Gochuico, Bernadette
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Kohler, Jennefer N.
- Krakow, Deborah
- Kravets, Elijah
- Koziura, Mary
- Lam, Byron
- Lam, Christina
- Lanza, Ian R.
- LeBlanc, Kimberly
- Lee, Brendan H.
- Lee, Hane
- Levitt, Roy
- Liu, Pengfei
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Majcherska, Marta M.
- Manolio, Teri A.
- Marth, Gabor
- Martínez‐Agosto, Julian A.
- Marwaha, Shruti
- McCauley, Jacob
- McConkie‐Rosell, Allyn
- McGee, Elisabeth
- Might, Matthew
- Mirzaa, Ghayda
- Moretti, Paolo M.
- Mosbrook‐Davis, Deborah
- Murdock, David R.
- Nieves‐Rodriguez, Shirley
- Parker, Neil H.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Quinlan, Aaron
- Raskind, Wendy
- Sacco, Ralph
- Sampson, Jacinda B.
- Saporta, Mario
- Shin, Jimann
- Silverman, Edwin K.
- Sinsheimer, Janet S.
- Solem, Emily
- Stoler, Joan M.
- Sun, Angela
- Tabor, Holly K.
- Tan, Amelia L. M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tucker, Brianna M.
- Vogel, Tiphanie P.
- Wambach, Jennifer
- Wang, Lee‐kai
- Wegner, Daniel
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Zein, Wadih
- Zuchner, Stephan
2024
Volltextzugriff (PDF)
Genetics in medicine, 2024-06, Vol.26 (6), p.101115, Article 101115
- Briere, Lauren C.
- Acosta, Maria T.
- Andrews, Ashley
- Ashley, Euan A.
- Bacino, Carlos A.
- Bale, Jim
- Barbouth, Deborah
- Bennett, Jimmy
- Bivona, Stephanie
- Blue, Elizabeth
- Burke, Elizabeth A.
- Byers, Peter
- Peter Chang, Ta Chen
- Chanprasert, Sirisak
- Coakley, Terra R.
- Cogan, Joy D.
- Colley, Heather A.
- Cope, Heidi
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dell'Angelica, Esteban C.
- Dipple, Katrina
- Doherty, Daniel
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Eng, Christine M.
- Fisher, Paul G.
- Gahl, William A.
- Glass, Ian
- Gochuico, Bernadette
- Hamid, Rizwan
- Hayes, Nichole
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Jayadev, Suman
- Jobanputra, Vaidehi
- Kiley, Dana
- Kohler, Jennefer N.
- Korrick, Susan
- Lalani, Seema R.
- Lam, Byron
- Lanpher, Brendan C.
- LeBlanc, Kimberly
- Levitt, Roy
- Lewis, Richard A.
- Liu, Pengfei
- Liu, Xue Zhong
- Longo, Nicola
- Maas, Richard L.
- Macnamara, Ellen F.
- Mao, Rong
- Marom, Ronit
- Martin, Beth A.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Marwaha, Shruti
- Miller, Danny
- Morava, Eva
- Moretti, Paolo
- Novacic, Donna
- Orengo, James P.
- Pallais, J. Carl
- Phillips, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Raskind, Wendy
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Schaechter, Judy
- Sisco, Kathy
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Spillmann, Rebecca C.
- Stergachis, Andrew
- Sullivan, Kathleen
- Sweetser, David A.
- Sybert, Virginia
- Tabor, Holly K.
- Tarakad, Arjun
- Thorson, Willa
- Vanderver, Adeline
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wenger, Tara
- Wheeler, Matthew T.
- Yang, John
- Zhang, Zhe
- Zuchner, Stephan
2024
Volltextzugriff (PDF)
American journal of human genetics, 2024-03, Vol.111 (3), p.529-543
- Scala, Marcello
- Ferla, Matteo
- Fatemi, Ali
- Phillips, John A.
- Rio, Marlene
- Siquier, Karine
- Musante, Ilaria
- Baldassari, Simona
- Iacomino, Michele
- Acosta, Maria T.
- Allworth, Aimee
- Afzali, Ben
- Bademci, Guney
- Beck, Anita
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Botto, Lorenzo
- Brown, Gabrielle
- Carrasquillo, Olveen
- Chanprasert, Sirisak
- Chao, HsiaoTuan
- Chinn, Ivan
- Clark, Gary D.
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Fisher, Paul G.
- Fogel, Brent L.
- Gahl, William A.
- Glass, Ian
- Godfrey, Rena A.
- Grajewski, Alana
- Gropman, Andrea
- Halley, Meghan C.
- Hanchard, Neal
- Hassey, Kelly
- Hayes, Nichole
- Hom, Jason
- Huang, Alden
- Introne, Wendy
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Kilich, Gonench
- Kohler, Jennefer N.
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Loscalzo, Joseph
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Moretti, Paolo
- Morimoto, Marie
- Nakano-Okuno, Mariko
- Nieves-Rodriguez, Shirley
- Orengo, James P.
- Pace, Laura
- Parker, Neil H.
- Quinlan, Aaron
- Raper, Anna
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rossignol, Francis
- Saporta, Mario
- Schaechter, Judy
- Seto, Elaine
- Shelkowitz, Emily
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Sweetser, David A.
- Sybert, Virginia
- Tarakad, Arjun
- Velinder, Matt
- Viskochil, Dave
- Ward, Patricia A.
- Wegner, Daniel
- Weisz Hubshman, Monika
- Wener, Mark
- Wenger, Tara
- Reed, Sara
- Al Saif, Hind
- Walsh, Matthew B.
- Gustincich, Stefano
- Ruggiero, Sarah M.
- Fitzgerald, Mark P.
- Helbig, Ingo
- Severino, Mariasavina
2024
Volltextzugriff (PDF)
BMC genomics, 2024-01, Vol.25 (1), p.115-22, Article 115
2024
Volltextzugriff (PDF)
American journal of human genetics, 2024-01, Vol.111 (1), p.96-118
- Michener, Sydney L.
- Chan, Hiuling
- Rosenfeld, Jill A.
- Bekheirnia, Mir Reza
- Wagner, Matias
- Engels, Hartmut
- Guillen Sacoto, Maria J.
- McDonnell, Pamela P.
- Pastinen, Tomi
- Zhou, Dihong
- Bolton, Jeffrey
- Julia Suh, Dong Sun
- Toosi, Mehran Beiraghi
- Maroofian, Reza
- Schaefer, Gerald Bradley
- Russ-Hall, Sophie
- Carvill, Gemma L.
- Mefford, Heather
- Acosta, Maria T.
- Adams, David R.
- Amendola, Laura
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Bican, Anna
- Blue, Elizabeth
- Botto, Lorenzo
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Carey, John
- Crouse, Andrew B.
- Dipple, Katrina
- Doss, Argenia L.
- Douine, Emilie D.
- Eckstein, David J.
- Fieg, Elizabeth L.
- Forghani, Irman
- Godfrey, Rena A.
- Grajewski, Alana
- Hahn, Sihoun
- Hisama, Fuki M.
- Hutchison, Sarah
- Introne, Wendy
- Ketkar, Shamika
- Kiley, Dana
- Kilich, Gonench
- Korrick, Susan
- Kozuira, Mary
- Krakow, Deborah
- Kravets, Elijah
- Lalani, Seema R.
- LeBlanc, Kimberly
- Levitt, Roy
- Lewis, Richard A.
- Loo, Sandra K.
- Mahoney, Rachel
- Mao, Rong
- Maravilla, Kenneth
- Marwaha, Shruti
- McCray, Alexa T.
- Merritt, J. Lawrence
- Morava, Eva
- Nakano-Okuno, Mariko
- Nelson, Stanley F.
- Phillips III, John A.
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Saporta, Mario
- Seto, Elaine
- Sisco, Kathy
- Spillmann, Rebecca C.
- Stoler, Joan M.
- Tabor, Holly K.
- Tan, Queenie K.-G.
- Tan, Amelia L.M.
- Telischi, Fred
- Tifft, Cynthia J.
- Toro, Camilo
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vogel, Tiphanie P.
- Wallace, Stephanie
- Wambach, Jennifer
- Wegner, Daniel
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
- Chao, Hsiao-Tuan
2024
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.17-30
- Benke, Paul J.
- Emrick, Lisa
- Fisher, Kristen
- Adam, Margaret
- Alvarez, Raquel L.
- Alvey, Justin
- Ashley, Euan A.
- Bacino, Carlos A.
- Bale, Jim
- Bamshad, Michael
- Barbouth, Deborah
- Beggs, Alan H.
- Bejerano, Gill
- Bennett, Jimmy
- Bernstein, Jonathan A.
- Blue, Elizabeth
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Cassini, Thomas
- Chang, Ta Chen Peter
- Coakley, Terra R.
- Cobban, Laurel A.
- Cole, F. Sessions
- Colley, Heather A.
- Corona, Rosario
- Crouse, Andrew B.
- Dai, Hongzheng
- Davis, Joie
- Dell'Angelica, Esteban C.
- Dickson, Patricia
- Douine, Emilie D.
- Eckstein, David J.
- Emrick, Lisa T.
- Hadley, Don
- Hamid, Rizwan
- Hassey, Kelly
- Hayes, Nichole
- Horike‐Pyne, Martha
- Huang, Alden
- Isasi, Rosario
- Izumi, Kosuke
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Jayadev, Suman
- Jean‐Marie, Orpa
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Maghiro, Audrey Stephannie
- Manolio, Teri A.
- Marwaha, Shruti
- McConkie‐Rosell, Allyn
- Mirzaa, Ghayda
- Morava, Eva
- Nicholas, Sarah K.
- Nickerson, Deborah
- Pallais, J. Carl
- Phillips, John A.
- Raskind, Wendy
- Rosenfeld, Jill A.
- Rosenwasser, Natalie
- Sampson, Jacinda B.
- Schaechter, Judy
- Schedl, Timothy
- Schoch, Kelly
- Shashi, Vandana
- Shin, Jimann
- Silverman, Edwin K.
- Solnica‐Krezel, Lilianna
- Solomon, Ben
- Sullivan, Kathleen
- Sweetser, David A.
- Tan, Amelia L. M.
- Tarakad, Arjun
- Vanderver, Adeline
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Yamamoto, Shinya
- Zhang, Zhe
- Zuchner, Stephan
- Glaser, Kimberly
- Murdock, David R.
- Rohena, Luis
- Diderich, Karin E. M.
- Lee, Brendan
2024
Volltextzugriff (PDF)
Journal of medical genetics, 2023-11, Vol.60 (11), p.1092-1104
- Yang, Gui Xiang
- Lu, Henry
- Sharma, Mehul
- Worley, Kim C
- Del Bel, Kate L
- Kozak, Frederick K
- Biggs, Catherine M
- Lalani, Seema R
- Henkelman, Erika
- Lehman, Anna
- Adams, David R
- Alvarez, Raquel L
- Alvey, Justin
- Bale, Jim
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Bejerano, Gill
- Bellen, Hugo J
- Bennett, Jimmy
- Berry, Gerard T
- Bivona, Stephanie
- Blue, Elizabeth
- Bonner, Devon
- Brokamp, Elly
- Carrasquillo, Olveen
- Chang, TaChen Peter
- Coggins, Matthew
- Craigen, William J
- D’Souza, Precilla
- Dai, Hongzheng
- Davis, Joie
- Dayal, Jyoti G
- Duncan, Laura
- Falk, Marni
- Fieg, Elizabeth L
- Gahl, William A
- Don Hadley, Sihoun Hahn
- Hassey, Kelly
- High, Frances
- Hisama, Fuki M
- Holm, Ingrid A
- Hom, Jason
- Huang, Alden
- Introne, Wendy
- Kilich, Gonench
- Kobren, Shilpa N
- Kohane, Isaac S
- Kohler, Jennefer N
- Korrick, Susan
- Krakow, Deborah
- Lewis, Richard A
- Loo, Sandra K
- Loscalzo, Joseph
- Mahoney, Rachel
- Malicdan, MayChristine V
- Manolio, Teri A
- Marth, Gabor
- Martínez-Agosto, Julian A
- McCauley, Jacob
- McGee, Elisabeth
- Mefford, Heather
- Mirzaa, Ghayda
- Mulvihill, John
- Nakano-Okuno, Mariko
- Orengo, James P
- Pace, Laura
- Pak, Stephen
- Papp, Jeanette C
- PhillipsIII, John A
- Quinlan, Aaron
- Raper, Anna
- Robertson, Amy K
- Sacco, Ralph
- Saporta, Mario
- Schaechter, Judy
- Schedl, Timothy
- Schoch, Kelly
- Scott, Daryl A
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- Silverman, Edwin K
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- Tabor, Holly K
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2023
Volltextzugriff (PDF)
The Journal of pediatrics, 2023-10, Vol.261, p.113537-113537, Article 113537
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- Jayadev, Suman
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- Kobren, Shilpa N.
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- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, Daryl A.
- Shashi, Vandana
- Shin, Jimann
- Sisco, Kathy
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- Sullivan, Jennifer A.
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- Telischi, Fred
- Toro, Camilo
- Ungar, Rachel A.
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- Walker, Melissa
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- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
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2023
Volltextzugriff (PDF)
Genetics in medicine, 2023-09, Vol.25 (9), p.100897-100897, Article 100897
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- Botto, Lorenzo
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- Chinn, Ivan
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- Cope, Heidi
- Craigen, William J.
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- Dipple, Katrina
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- Hamid, Rizwan
- Introne, Wendy
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- LeBlanc, Kimberly
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- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
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- Martínez-Agosto, Julian A.
- McConkie-Rosell, Allyn
- Merritt, J. Lawrence
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- Mulvihill, John
- Newman, John H.
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- Orengo, James P.
- Pace, Laura
- Papp, Jeanette C.
- Parker, Neil H.
- Pusey Swerdzewski, Barbara N.
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- Raper, Anna
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- Robertson, Amy K.
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- Rossignol, Francis
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- Sinsheimer, Janet S.
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- Spillmann, Rebecca C.
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sun, Angela
- Sutton, Shirley
- Tabor, Holly K.
- Tan, Queenie K.-G.
- Telischi, Fred
- Tifft, Cynthia J.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wang, Lee-kai
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- Yamamoto, Shinya
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- Davis, Erica E.
2023
Volltextzugriff (PDF)
American journal of human genetics, 2023-08, Vol.110 (8), p.1414-1435
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2023
Volltextzugriff (PDF)
American journal of human genetics, 2023-08, Vol.110 (8), p.1377-1393
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2023
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1911-1916
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2023
Volltextzugriff (PDF)
Genetics in medicine, 2023-06, Vol.25 (6), p.100833-100833, Article 100833
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- Hadley, Don
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- Hayes, Nichole
- Horike-Pyne, Martha
- Huang, Alden
- Isasi, Rosario
- Izumi, Kosuke
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Jayadev, Suman
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kennedy, Jennifer
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- Korrick, Susan
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- Maghiro, AudreyStephannie
- Marth, Gabor
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- McGee, Elisabeth
- Might, Matthew
- Mirzaa, Ghayda
- Mulvihill, John
- Nicholas, Sarah K.
- Orengo, James P.
- Pak, Stephen
- Pallais, J. Carl
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- Rives, Lynette
- Rossignol, Francis
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- Saporta, Mario
- Schedl, Timothy
- Shashi, Vandana
- Shin, Jimann
- Silverman, Edwin K.
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Spillmann, Rebecca C.
- Sullivan, Kathleen
- Sybert, Virginia
- Tabor, Holly K.
- Vanderver, Adeline
- Velinder, Matt
- Walley, Nicole M.
- Wambach, Jennifer
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Yamamoto, Shinya
- Zhang, Zhe
- Zuchner, Stephan
2023
Volltextzugriff (PDF)
American journal of human genetics, 2023-05, Vol.110 (5), p.774-789
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- Clark, Gary D.
- Coakley, Terra R.
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- Craigen, William J.
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- Forghani, Irman
- Glass, Ian
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- Golden-Grant, Katie
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- Gutierrez, Irma
- Hamid, Rizwan
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- LeBlanc, Kimberly
- Levitt, Roy
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Merritt, J. Lawrence
- Morava, Eva
- Newman, John H.
- Nickerson, Deborah
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
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- Papp, Jeanette C.
- Rao, Deepak A.
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, C. Ron
- Shin, Jimann
- Sinsheimer, Janet S.
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Telischi, Fred
- Toro, Camilo
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walker, Melissa
- Wangler, Michael F.
- Perry, Katherine Wesseling
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2023
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.73-10, Article 73
2023
Volltextzugriff (PDF)
Genetics in medicine, 2023-04, Vol.25 (4), p.100353-100353, Article 100353
- Zastrow, Diane
- Baugh, Evan
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- Adam, Margaret
- Amendola, Laura
- Andrews, Ashley
- Azamian, Mahshid S.
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- Bademci, Guney
- Baldridge, Dustin
- Bale, Jim
- Barbouth, Deborah
- Beck, Anita
- Bennet, Jimmy
- Bivona, Stephanie
- Blue, Elizabeth
- Brokamp, Elly
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Cassini, Thomas
- Coakley, Terra R.
- Cobban, Laurel A.
- Cole, F. Sessions
- Cooper, Cynthia M.
- Dasari, Surendra
- Dayal, Jyoti G.
- Doherty, Daniel
- Dorrani, Naghmeh
- Earl, Dawn
- Eckstein, David J.
- Emrick, Lisa T.
- Fogel, Brent L.
- Forghani, Irman
- Gochuico, Bernadette
- Golden-Grant, Katie
- Grajewski, Alana
- Gutierrez, Irma
- Hamid, Rizwan
- Hassey, Kelly
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Huang, Alden
- Huang, Yong
- Introne, Wendy
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- Levitt, Roy
- Maduro, Valerie V.
- Malicdan, May Christine V.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Newman, John H.
- Nieves-Rodriguez, Shirley
- Novacic, Donna
- Oglesbee, Devin
- Orengo, James P.
- Pace, Laura
- Pak, Stephen
- Papp, Jeanette C.
- Parker, Neil H.
- Quinlan, Aaron
- Renteria, Genecee
- Rives, Lynette
- Rodan, Lance H.
- Scott, C. Ron
- Scott, Daryl A.
- Sinsheimer, Janet S.
- Smith, Kevin S.
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sun, Angela
- Sutton, Shirley
- Tan, Queenie K.-G.
- Telischi, Fred
- Toro, Camilo
- Urv, Tiina K.
- Wahl, Colleen E.
- Walker, Melissa
- Wallace, Stephanie
- Wang, Lee-kai
- Wangler, Michael F.
- Westerfield, Monte
- Wolfe, Lynne A.
- Zuchner, Stephan
2023
Volltextzugriff (PDF)
Npj genomic medicine, 2023-02, Vol.8 (1), p.4-16, Article 4
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- Bhambhani, Vikas
- Gazzaz, Nour
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- Sathiyaseelan, Paalini
- Macnamara, Ellen F.
- Lange, Jennifer
- Lehman, Anna
- Zerfas, Patricia M.
- Murphy, Jennifer L.
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- Wang, Camille
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2023
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-8, Article 6
2023
Volltextzugriff (PDF)
Annals of the rheumatic diseases, 2022-10, Vol.81 (10), p.1453-1464
- Kodati, Shilpa
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- Rosenzweig, Sofia
- Romeo, Tina
- Sen, Nida
- Dusser, Perrine
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- Titah, Salah Mohamed
- van der Spek, Peter J
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- Sangiorgi, Eugenio
- Manna, Raffaele
- Brooks, Brian P
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- Kastner, Daniel L
- Azamian, Mahshid S.
- Bademci, Guney
- Balasubramanyam, Ashok
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Berg-Rood, Beverly
- Bonner, Devon
- Brokamp, Elly
- Brown, Gabrielle
- Carey, John
- Chang, TaChen Peter
- Chao, Hsiao-Tuan
- Coakley, Terra R.
- Coggins, Matthew
- Cooper, Cynthia M.
- Craigen, William J.
- Davis, Joie
- Dipple, Katrina
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