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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...American journal of human genetics, 2024-04, Vol.111 (4), p.778-790
- Mullegama, Sureni V.
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- Muller, Eric
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- Sawyer, Sarah L.
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Pediatrics international, 2012-10, Vol.54 (5), p.585-601
2012
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Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.189-189, Article 189
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Hepatology (Baltimore, Md.), 2013-06, Vol.57 (6), p.2171-2179
- Diaz, George A.
- Krivitzky, Lauren S.
- Mokhtarani, Masoud
- Rhead, William
- Bartley, James
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- Berry, Susan A.
- Gallagher, Renata
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- Harding, Cary O.
- Cederbaum, Stephen
- McCandless, Shawn E.
- Smith, Wendy
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- Moors, Tristen L.
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- Lee, Brendan
2013
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Molecular genetics and metabolism, 2019-08, Vol.127 (4), p.336-345
- Diaz, George A.
- Schulze, Andreas
- Longo, Nicola
- Rhead, William
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- Wong, Derek
- Merritt, J. Lawrence
- Berquist, William
- Gallagher, Renata C.
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- Berry, Susan A.
2019
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Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.29-34
- Nagamani, Sandesh C S
- Diaz, George A
- Rhead, William
- Berry, Susan A
- Le Mons, Cynthia
- Lichter-Konecki, Uta
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- Harding, Cary O
- Korson, Mark S
- McCandless, Shawn E
- Smith, Wendy
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- Merritt, 2nd, J Lawrence
- Wong, Derek
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- Scharschmidt, Bruce F
- Dickinson, Klara
- Marino, Miguel
- Lee, Brendan H
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2015
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- Lee, Brendan
- Diaz, George A.
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- Lichter-Konecki, Uta
- Feigenbaum, Annette
- Berry, Susan A.
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- Summar, Marshall
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- Coakley, Dion F.
- Mokhtarani, Masoud
- Scharschmidt, Bruce F.
2015
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Genetics in medicine, 2019-03, Vol.21 (3), p.601-607
- Dines, Jennifer N.
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- Cho, Megan T.
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- Becker, Kolja
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- Monaghan, Kristin G.
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2019
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.326-334
- Dang Do, An N.
- Chang, Irene J.
- Jiang, Xutian
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- Ondruskova, Nina
- O'Connor, Shawn D.
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- Wang, Raymond Y.
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- Ory, Daniel S.
- Freeze, Hudson H.
- Merritt, J. Lawrence
- Porter, Forbes D.
2023
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Scientific reports, 2020-07, Vol.10 (1), p.11948-11948, Article 11948
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Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.243-253
- Buerger, Corinna
- Garbade, Sven F.
- Dietrich Alber, Fabienne
- Waisbren, Susan E.
- McCarter, Robert
- Kölker, Stefan
- Burgard, Peter
- Ah Mew, Nicholas
- Batshaw, Mark L.
- Baumgartner, Matthias R.
- Berry, Susan A.
- Coughlin, Curtis
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- Lawrence Merritt, J.
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- Johannesen, Katrine M.
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- Linnankivi, Tarja
- Courage, Carolina
- Saint Martin, Anne
- Lehesjoki, Anna‐Elina
- Mignot, Cyril
- Afenjar, Alexandra
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- Abi‐Warde, Marie‐Thérèse
- Chelly, Jamel
- Piton, Amélie
- Merritt, J. Lawrence
- Rodan, Lance H.
- Tan, Wen‐Hann
- Bird, Lynne M.
- Nespeca, Mark
- Gleeson, Joseph G.
- Yoo, Yongjin
- Choi, Murim
- Chae, Jong‐Hee
- Czapansky‐Beilman, Desiree
- Reichert, Sara Chadwick
- Pendziwiat, Manuela
- Verhoeven, Judith S.
- Schelhaas, Helenius J.
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- Christensen, Jakob
- Specchio, Nicola
- Trivisano, Marina
- Weber, Yvonne G.
- Nava, Caroline
- Keren, Boris
- Doummar, Diane
- Schaefer, Elise
- Hopkins, Sarah
- Dubbs, Holly
- Shaw, Jessica E.
- Pisani, Laura
- Myers, Candace T.
- Tang, Sha
- Tang, Shan
- Pal, Deb K.
- Millichap, John J.
- Carvill, Gemma L.
- Helbig, Kathrine L.
- Mecarelli, Oriano
- Striano, Pasquale
- Helbig, Ingo
- Rubboli, Guido
- Mefford, Heather C.
- Møller, Rikke S.
2018
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2005
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American journal of human genetics, 2020-04, Vol.106 (4), p.570-583
- Mao, Dongxue
- Reuter, Chloe M.
- Farrow, Emily G.
- Rosenfeld, Jill A.
- Mackenzie, Katherine M.
- Küry, Sébastien
- Genetti, Casie A.
- Alejandro, Mercedes
- Agrawal, Pankaj B.
- Alvey, Justin
- Ashley, Euan A.
- Balasubramanyam, Ashok
- Beck, Anita
- Bellen, Hugo J.
- Berg-Rood, Beverly
- Bernier, Raphael
- Bivona, Stephanie
- Bohnsack, John
- Briere, Lauren C.
- Burke, Elizabeth A.
- Butte, Manish J.
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- Cogan, Joy D.
- Cole, F. Sessions
- Colley, Heather A.
- Cooper, Cynthia M.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Estwick, Tyra
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Hahn, Sihoun
- Hanchard, Neil A.
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
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- Kelley, Emily G.
- Kohane, Isaac S.
- Kohler, Jennefer N.
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- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lam, Byron
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lee, Brendan H.
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Mulvihill, John J.
- Murdock, David R.
- Nickerson, Deborah
- Pallais, J. Carl
- Posey, Jennifer E.
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- Schedl, Timothy
- Shakachite, Lisa
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- Sybert, Virginia
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- Tran, Alyssa A.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Bernstein, Jonathan A.
- Chao, Hsiao-Tuan
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The Journal of pediatrics, 2023-10, Vol.261, p.113537-113537, Article 113537
- Maghiro, AudreyStephannie
- Tabor, Holly K.
- Acosta, Maria T.
- Amendola, Laura
- Andrews, Ashley
- Balasubramanyam, Ashok
- Baldridge, Dustin
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- Berry, Gerard T.
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- Chanprasert, Sirisak
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- Cobban, Laurel A.
- Cogan, Joy D.
- Sessions Cole, F.
- Colley, Heather A.
- Cope, Heidi
- D'Souza, Precilla
- Dasari, Surendra
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- Doherty, Daniel
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- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- Hassey, Kelly
- Holm, Ingrid A.
- Hom, Jason
- Introne, Wendy
- Izumi, Kosuke
- Jayadev, Suman
- Kiley, Dana
- Kobren, Shilpa N.
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Christina
- Lanza, Ian R.
- Lee, Brendan H.
- Loo, Sandra K.
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Manolio, Teri A.
- Marth, Gabor
- McConkie-Rosell, Allyn
- Mefford, Heather
- Nickerson, Deborah
- Nieves-Rodriguez, Shirley
- 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
- Smith, Edward C.
- Solomon, Ben
- Sullivan, Jennifer A.
- Sybert, Virginia
- Tan, Amelia L.M.
- Tekin, Mustafa
- Telischi, Fred
- Toro, Camilo
- Ungar, Rachel A.
- Vanderver, Adeline
- Walker, Melissa
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
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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
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Genetics in medicine, 2023-09, Vol.25 (9), p.100897-100897, Article 100897
- Schoch, Kelly
- Kranz, Peter G.
- Markert, M. Louise
- Arbogast, Thomas
- Muraresku, Colleen
- Adams, David R.
- Alvarez, Raquel L.
- Balasubramanyam, Ashok
- Bamshad, Michael
- Beck, Anita
- Behrens, Edward
- Bejerano, Gill
- Bellen, Hugo J.
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Brown, Gabrielle
- Butte, Manish J.
- Byrd, William E.
- Carrasquillo, Olveen
- Cassini, Thomas
- Chanprasert, Sirisak
- Chinn, Ivan
- Clark, Gary D.
- Coggins, Matthew
- Cope, Heidi
- Craigen, William J.
- D’Souza, Precilla
- Dipple, Katrina
- Doherty, Daniel
- Fisher, Paul G.
- Fogel, Brent L.
- Glass, Ian
- Gochuico, Bernadette
- Godfrey, Rena A.
- Hahn, Sihoun
- Hamid, Rizwan
- Introne, Wendy
- Jamal, Fariha
- Jean-Marie, Orpa
- Kobren, Shilpa N.
- Krakow, Deborah
- Krasnewich, Donna M.
- Kravets, Elijah
- LeBlanc, Kimberly
- Lee, Brendan H.
- Loo, Sandra K.
- Loscalzo, Joseph
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Marom, Ronit
- Martínez-Agosto, Julian A.
- McConkie-Rosell, Allyn
- Merritt, J. Lawrence
- Might, Matthew
- Mulvihill, John
- Newman, John H.
- Nieves-Rodriguez, Shirley
- Orengo, James P.
- Pace, Laura
- Papp, Jeanette C.
- Parker, Neil H.
- Pusey Swerdzewski, Barbara N.
- Quinlan, Aaron
- Raper, Anna
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Rossignol, Francis
- Sampson, Jacinda B.
- Saporta, Mario
- Schaechter, Judy
- Scott, C. Ron
- Seto, Elaine
- Sinsheimer, Janet S.
- Solnica-Krezel, Lilianna
- 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
- Wangler, Michael F.
- Wheeler, Matthew T.
- Worley, Kim
- Xiao, Changrui
- Yamamoto, Shinya
- Tyndall, Amanda V.
- Woodward, Kristine E.
- Wright, Nicola A.M.
- Davis, Erica E.
2023
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Genetics in medicine, 2023-06, Vol.25 (6), p.100833, Article 100833
- Kanca, Oguz
- Jangam, Sharayu
- Tifft, Cynthia
- Russell, Bianca E.
- Amendola, Laura
- Andrews, Ashley
- Ashley, Euan A.
- Bacino, Carlos A.
- Bademci, Guney
- Baldridge, Dustin
- Bale, Jim
- Beck, Anita
- Bennett, Jimmy
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Cassini, Thomas
- Coakley, Terra R.
- Cobban, Laurel A.
- Cogan, Joy D.
- Coggins, Matthew
- Colley, Heather A.
- Cooper, Cynthia M.
- Corona, Rosario
- Crouse, Andrew B.
- Dai, Hongzheng
- Davis, Joie
- Dell'Angelica, Esteban C.
- 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
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kennedy, Jennifer
- Kohler, Jennefer N.
- Korrick, Susan
- Krakow, Deborah
- Krasnewich, Donna M.
- Lanza, Ian R.
- Lee, Brendan H.
- Loo, Sandra K.
- MacRae, Calum A.
- Maghiro, AudreyStephannie
- Marth, Gabor
- McCauley, Jacob
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- McGee, Elisabeth
- Might, Matthew
- Mirzaa, Ghayda
- Mulvihill, John
- Nicholas, Sarah K.
- Orengo, James P.
- Pak, Stephen
- Pallais, J. Carl
- Palmer, Christina G.S.
- Parker, Neil H.
- Pusey Swerdzewski, Barbara N.
- Quinlan, Aaron
- Reuter, Chloe M.
- Rives, Lynette
- Rossignol, Francis
- Sacco, Ralph
- Sampson, Jacinda B.
- 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
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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
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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
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Volltextzugriff (PDF)
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2014
Volltextzugriff (PDF)
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- Posset, Roland
- Gropman, Andrea L.
- Nagamani, Sandesh C. S.
- Burrage, Lindsay C.
- Bedoyan, Jirair K.
- Wong, Derek
- Berry, Gerard T.
- Baumgartner, Matthias R.
- Yudkoff, Marc
- Zielonka, Matthias
- Hoffmann, Georg F.
- Burgard, Peter
- Schulze, Andreas
- McCandless, Shawn E.
- Garcia‐Cazorla, Angeles
- Seminara, Jennifer
- Garbade, Sven F.
- Kölker, Stefan
- Lee, Brendan
- Harding, Cary O.
- Coughlin, Curtis R.
- Le Mons, Cynthia
- Dobbelaere, Dries
- Leão Teles, Elisa
- Cortès‐Saladelafont, Elisenda
- Gleich, Florian
- Eyskens, Francois
- Enns, Gregory
- Wilkening, Greta N.
- Barić, Ivo
- Lawrence Merritt, J.
- Heringer, Jana
- Blasco‐Alonso, Javier
- Zeman, Jiri
- Häberle, Johannes
- Sykut‐Cegielska, Jolanta
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- Batshaw, Mark L.
- Summar, Marshall
- Freisinger, Peter
- Gallagher, Renata C.
- Berry, Susan A.
- Waisbren, Susan
- Stricker, Tamar
2019
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