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Journal of intellectual disability research, 2020-11, Vol.64 (11), p.825-833
2020
Link zum Volltext
Journal of intellectual disability research, 2020-01, Vol.64 (1), p.18-26
2020
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The Journal of neuroscience, 2024-01, Vol.44 (4)
2024
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Journal of autism and developmental disorders, 2022-12, Vol.52 (12), p.5308-5320
2022
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Forest ecology and management, 2016-09, Vol.376, p.205-220
2016
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Journal of autism and developmental disorders, 2022-12, Vol.52 (12), p.5321-5321
2022
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Annals of forest science., 2016-12, Vol.73 (4), p.1047-1061
2016
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Case reports in pulmonology, 2022-10, Vol.2022, p.1-4
2022
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Clinical genetics, 2015-06, Vol.87 (6), p.570-575
2015
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Chest, 2022-10, Vol.162 (4), p.A1713-A1713
2022
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Nature communications, 2017-07, Vol.8 (1), p.16077-16077, Article 16077
- Di Gioia, Silvio Alessandro
- Connors, Samantha
- Matsunami, Norisada
- Cannavino, Jessica
- Rose, Matthew F
- Gilette, Nicole M
- Artoni, Pietro
- de Macena Sobreira, Nara Lygia
- Chan, Wai-Man
- Webb, Bryn D
- Robson, Caroline D
- Cheng, Long
- Van Ryzin, Carol
- Ramirez-Martinez, Andres
- Mohassel, Payam
- Leppert, Mark
- Scholand, Mary Beth
- Grunseich, Christopher
- Ferreira, Carlos R
- Hartman, Tyler
- Hayes, Ian M
- Morgan, Tim
- Markie, David M
- Fagiolini, Michela
- Swift, Amy
- Chines, Peter S
- Speck-Martins, Carlos E
- Collins, Francis S
- Jabs, Ethylin Wang
- Bönnemann, Carsten G
- Olson, Eric N
- Carey, John C
- Robertson, Stephen P
- Manoli, Irini
- Engle, Elizabeth C
2017
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The American journal of case reports, 2019-11, Vol.20, p.1745-1749
2019
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Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.206-206, Article 206
2021
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Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1420-1435
- Srivastava, Siddharth
- Shaked, Hagar Mor
- Gable, Kenneth
- Gupta, Sita D
- Pan, Xueyang
- Somashekarappa, Niranjanakumari
- Han, Gongshe
- Mohassel, Payam
- Gotkine, Marc
- Doney, Elizabeth
- Goldenberg, Paula
- Tan, Queenie K G
- Gong, Yi
- Kleinstiver, Benjamin
- Wishart, Brian
- Cope, Heidi
- Pires, Claudia Brito
- Stutzman, Hannah
- Spillmann, Rebecca C
- Sadjadi, Reza
- Elpeleg, Orly
- Lee, Chia-Hsueh
- Bellen, Hugo J
- Edvardson, Simon
- Eichler, Florian
- Dunn, Teresa M
2023
Link zum Volltext
Pediatric neurology, 2020-05, Vol.106, p.24-31
- Bassell, Julia
- Srivastava, Siddharth
- Prohl, Anna K.
- Scherrer, Benoit
- Kapur, Kush
- Filip-Dhima, Rajna
- Berry-Kravis, Elizabeth
- Soorya, Latha
- Thurm, Audrey
- Powell, Craig M.
- Bernstein, Jonathan A.
- Buxbaum, Joseph D.
- Kolevzon, Alexander
- Warfield, Simon K.
- Sahin, Mustafa
- Buxbaum, Joseph
- Berry Kravis, Elizabeth
- Powell, Craig
- Warfield, Simon
- Dies, Kira
- Siper, Paige
- Hanson, Ellen
- Phillips, Jennifer M.
- White, Stormi P.
2020
Link zum Volltext
Genetics in medicine, 2021-04, Vol.23 (4), p.740-750
- Ruiter, Jos P.N.
- van Lint, Alida E.M.
- Pras-Raves, Mia
- Wever, Eric
- Guillen Sacoto, Maria J.
- Begtrup, Amber
- Tarnopolsky, Mark
- Sell, Susan L.
- Nowak, Catherine B.
- Douglas, Jessica
- Perlman, Seth
- Martin, Nicole
- Brault, Jennifer
- Gahl, William A.
- Alejandro, Mercedes E.
- Dai, Hongzheng
- Dhar, Shweta U.
- Hanchard, Neil A.
- Lee, Brendan H.
- Moretti, Paolo M.
- Murdock, David R.
- Nicholas, Sarah K.
- Potocki, Lorraine
- Scott, Daryl A.
- Eng, Christine M.
- Deardorff, Matthew
- Hassey, Kelly
- Sullivan, Kathleen
- Tan, Queenie K.-G.
- Beggs, Alan H.
- Berry, Gerard T.
- Cooper, Cynthia M.
- Pallais, J. Carl
- Rodan, Lance H.
- Kelley, Emily G.
- Morava, Eva
- Forghani, Irman
- Lam, Byron
- Levitt, Roy
- Liu, Xue Zhong
- McCauley, Jacob
- Tekin, Mustafa
- Thorson, Willa
- Findley, Laurie C.
- Krasnewich, Donna M.
- Manolio, Teri A.
- Goldrich, Madison P.
- Draper, David D.
- Nath, Avi
- Pusey, Barbara N.
- Toro, Camilo
- Baker, Eva
- Gochuico, Bernadette
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Adam, Margaret
- Amendola, Laura
- Cunningham, Michael
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Lam, Christina
- Raskind, Wendy
- Sybert, Virginia
- Ashley, Euan A.
- Coakley, Terra R.
- Hom, Jason
- Majcherska, Marta M.
- Martin, Beth A.
- Marwaha, Shruti
- Ruzhnikov, Maura
- Tabor, Holly K.
- Tucker, Brianna M.
- Zastrow, Diane B.
- Byrd, William E.
- Dell’Angelica, Esteban C.
- Douine, Emilie D.
- Mak, Bryan C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McGee, Elisabeth
- Nelson, Stanley F.
- Parker, Neil H.
- Sinsheimer, Janet S.
- Wang, Lee-kai
- Perry, Katherine Wesseling
- Woods, Jeremy D.
- Pace, Laura
- Marth, Gabor
- Viskochil, Dave
- Bayrak-Toydemir, Pinar
- Duncan, Laura
- Robertson, Amy K.
- Solem, Emily
- Schedl, Timothy
- Shin, Jimann
- Solnica-Krezel, Lilianna
- Waisfisz, Quinten
- Zwijnenburg, Petra J.G.
- Wanders, Ronald J.A.
- Vaz, Frédéric M.
2021
Link zum Volltext
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Kurata, Harley T.
- Jamra, Rami Abou
- Alkelai, Anna
- Antonarakis, Stylianos E.
- Bolkier, Yoav
- Dickson, Patricia
- Donald, Kirsten A.
- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
- Ortiz-Gonzalez, Xilma
- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
- Tekin, Mustafa
- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Mefford, Heather
- Merritt, J. Lawrence
- Raskind, Wendy
- Sybert, Virginia
- Wener, Mark
- Wenger, Tara
- Fisher, Paul G.
- Reuter, Chloe M.
- Smith, Kevin S.
- Zastrow, Diane B.
- Nakano-Okuno, Mariko
- Whitlock, Jordan
- Butte, Manish J.
- Fogel, Brent L.
- Krakow, Deborah
- Lee, Hane
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Woods, Jeremy D.
- Andrews, Ashley
- Pace, Laura
- Viskochil, Dave
- Bican, Anna
- Kennedy, Jennifer
- Cogan, Joy D.
- Cole, F. Sessions
- Kiley, Dana
- Sisco, Kathy
- Schedl, Timothy
- Solnica-Krezel, Lilianna
- Pitt, Geoffrey S.
2021
Link zum Volltext
Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.53-53, Article 53
2021
Link zum Volltext
Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
- Schoch, Kelly
- Esteves, Cecilia
- Bican, Anna
- Spillmann, Rebecca
- Cope, Heidi
- McConkie-Rosell, Allyn
- Walley, Nicole
- Fernandez, Liliana
- Kohler, Jennefer N
- Bonner, Devon
- Reuter, Chloe
- Stong, Nicholas
- Mulvihill, John J
- Novacic, Donna
- Wolfe, Lynne
- Abdelbaki, Ayat
- Toro, Camilo
- Tifft, Cyndi
- Malicdan, May
- Gahl, William
- Liu, Pengfei
- Newman, John
- Goldstein, David B
- Hom, Jason
- Sampson, Jacinda
- Wheeler, Matthew T
- Cogan, Joy
- Bernstein, Jonathan A
- Adams, David R
- McCray, Alexa T
- Shashi, Vandana
2021
Link zum Volltext
Genetics in medicine, 2021-10, Vol.23 (10), p.1889-1900
- Ravenscroft, Thomas A.
- Fieg, Elizabeth
- Zirin, Jonathan
- Kanca, Oguz
- Adam, Margaret
- Agrawal, Pankaj B.
- Alejandro, Mercedes E.
- Alvey, Justin
- Andrews, Ashley
- Azamian, Mahshid S.
- Bademci, Guney
- Balasubramanya, Ashok
- Behrens, Edward
- Bican, Anna
- Bohnsack, John
- Botto, Lorenzo
- Brown, Gabrielle
- Byers, Peter
- Chanprasert, Sirisak
- Chao, Hsiao-Tuan
- Cobban, Laurel A.
- Cogan, Joy D.
- Colley, Heather A.
- Cope, Heidi
- Craigen, William J.
- Crouse, Andrew B.
- Dai, Hongzheng
- Dayal, Jyoti G.
- Dipple, Katrina
- Dorrani, Naghmeh
- Draper, David D.
- Emrick, Lisa T.
- Falk, Marni
- Fernandez, Liliana
- Fieg, Elizabeth L.
- Findley, Laurie C.
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Goldstein, David B.
- Hamid, Rizwan
- Hanchard, Neil A.
- Hassey, Kelly
- Hayes, Nichole
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Huang, Yong
- Huryn, Laryssa
- Isasi, Rosario
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Jayadev, Suman
- Kiley, Dana
- Krasnewich, Donna M.
- Lam, Christina
- Lee, Hane
- MacDowall, John
- Majcherska, Marta M.
- Mak, Bryan C.
- Mamounas, Laura A.
- Martínez-Agosto, Julian A.
- McCauley, Jacob
- Mulvihill, John J.
- Newman, John H.
- Oglesbee, Devin
- Pace, Laura
- Pallais, J. Carl
- Palmer, Christina GS
- Posey, Jennifer E.
- Potocki, Lorraine
- Power, Bradley
- Pusey, Barbara N.
- Rives, Lynette
- Sacco, Ralph
- Sampson, Jacinda B.
- Samson, Susan L.
- Scott, C. Ron
- Schedl, Timothy
- Shashi, Vandana
- Tan, Queenie K.-G.
- Toro, Camilo
- Viskochil, Dave
- Wahl, Colleen E.
- Wambach, Jennifer
- Wang, Lee-kai
- Wener, Mark
- Perry, Katherine Wesseling
- Westerfield, Monte
- Whitlock, Jordan
- Yamamoto, Shinya
- Yang, John
- Yousef, Muhammad
- Zastrow, Diane B.
- Zhao, Chunli
- Osmond, Matthew
- Postlethwait, John H.
- Krier, Joel
- Bellen, Hugo J.
2021
Link zum Volltext
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
Link zum Volltext
Genetics in medicine, 2021-06, Vol.23 (6), p.1075-1085
- Krier, Joel B.
- Züchner, Stephan
- Huang, Alden
- Bastarache, Lisa
- Bican, Anna
- Liu, Pengfei
- Adam, Margaret
- Alejandro, Mercedes E.
- Alvey, Justin
- Azamian, Mahshid S.
- Bademci, Guney
- Baker, Eva
- Balasubramanyam, Ashok
- Bale, Jim
- Beck, Anita
- Bennett, Jimmy
- Berry, Gerard T.
- Bohnsack, John
- Bonner, Devon
- Boyd, Brenna
- Brown, Gabrielle
- Burrage, Lindsay C.
- Butte, Manish J.
- Coakley, Terra R.
- Cobban, Laurel A.
- Cogan, Joy D.
- Cole, F. Sessions
- Cunningham, Michael
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Eng, Christine M.
- Falk, Marni
- Ferreira, Carlos
- Findley, Laurie C.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Glass, Ian
- Godfrey, Rena A.
- Hanchard, Neil A.
- Hing, Anne
- Huryn, Laryssa
- Isasi, Rosario
- Kiley, Dana
- Korrick, Susan
- Krakow, Deborah
- Lalani, Seema R.
- LeBlanc, Kimberly
- Liu, Xue Zhong
- MacDowall, John
- MacRae, Calum A.
- Mamounas, Laura A.
- Maravilla, Kenneth
- Markello, Thomas C.
- Martin, Beth A.
- Martin, Martin G.
- Marwaha, Shruti
- McCauley, Jacob
- Merritt, J. Lawrence
- Might, Matthew
- Moretti, Paolo
- Murdock, David R.
- Nakano-Okuno, Mariko
- Nickerson, Deborah
- Oglesbee, Devin
- Pace, Laura
- Pallais, J. Carl
- Papp, Jeanette C.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Raja, Archana N.
- Renteria, Genecee
- Rosenwasser, Natalie
- Rossignol, Francis
- Ruzhnikov, Maura
- Sampson, Jacinda B.
- Schedl, Timothy
- Shin, Jimann
- Smith, Edward C.
- Sun, Angela
- Sutton, Shirley
- Sweetser, David A.
- Sybert, Virginia
- Toro, Camilo
- Tucker, Brianna M.
- Velinder, Matt
- Viskochil, Dave
- Wambach, Jennifer
- Wang, Lee-kai
- Ward, Patricia A.
- Wener, Mark
- Westerfield, Monte
- Whitlock, Jordan
- Woods, Jeremy D.
- Yamamoto, Shinya
- Yang, John
- Zein, Wadih
2021
Link zum Volltext
Genetics in medicine, 2021-08, Vol.23 (8), p.1465-1473
- Erger, Florian
- Settas, Nikolaos
- London, Edra
- Torti, Erin
- Nelson, Stanley F.
- Acosta, Maria T.
- Adams, David R.
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bale, Jim
- Bamshad, Michael
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Bennett, Jimmy
- Bernstein, Jonathan A.
- Blue, Elizabeth
- Bohnsack, John
- Bonnenmann, Carsten
- Boyd, Brenna
- Brokamp, Elly
- Burke, Elizabeth A.
- Byrd, William E.
- Carrasquillo, Olveen
- Chanprasert, Sirisak
- Chao, Hsiao-Tuan
- Coggins, Matthew
- Cole, F. Sessions
- Crouse, Andrew B.
- Cunningham, Michael
- D’Souza, Precilla
- Dai, Hongzheng
- Dipple, Katrina
- Doherty, Daniel
- Earl, Dawn
- Eckstein, David J.
- Eng, Christine M.
- Ferreira, Carlos
- Glass, Ian
- Gochuico, Bernadette
- Goldman, Alica M.
- Goldstein, David B.
- Hassey, Kelly
- Hom, Jason
- Huang, Yong
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Krasnewich, Donna M.
- LaMoure, Grace L.
- Lalani, Seema R.
- Lanpher, Brendan C.
- Latham, Lea
- Liu, Pengfei
- Liu, Xue Zhong
- Macnamara, Ellen F.
- Malicdan, May Christine V.
- Manolio, Teri A.
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Beth A.
- Marwaha, Shruti
- McCormack, Colleen E.
- McGee, Elisabeth
- Might, Matthew
- Nakano-Okuno, Mariko
- Nath, Avi
- Nicholas, Sarah K.
- Novacic, Donna
- Orengo, James P.
- Pallais, J. Carl
- Palmer, Christina G.S.
- Parker, Neil H.
- Posey, Jennifer E.
- Quinlan, Aaron
- Reuter, Chloe M.
- Robertson, Amy K.
- Ruzhnikov, Maura
- Samson, Susan L.
- Saporta, Mario
- Schaechter, Judy
- Signer, Rebecca H.
- Smith, Kevin S.
- Ben Solomon
- Stoler, Joan M.
- Sullivan, Jennifer A.
- Sullivan, Kathleen
- Sun, Angela
- Tabor, Holly K.
- Tucker, Brianna M.
- Vanderver, Adeline
- Wallace, Stephanie
- Wangler, Michael F.
- Ward, Patricia A.
- Whitlock, Jordan
- Wolfe, Lynne A.
- Woods, Jeremy D.
- Zastrow, Diane B.
- Grange, Dorothy K.
- Willaert, Rebecca
- Theiß, Susanne
- Stocco, Amber
2021
Link zum Volltext
The Journal of pediatrics, 2015-12, Vol.167 (6), p.1340-1346.e9
2015
Link zum Volltext
Orphanet journal of rare diseases, 2023-01, Vol.18 (1), p.6-6, Article 6
2023
Link zum Volltext
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