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221.
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] by
- Helbig, Katherine L
- Lauerer, Robert J
- Bahr, Jacqueline C
- Souza, Ivana A
- Myers, Candace T
- Uysal, Betül
- Schwarz, Niklas
- Gandini, Maria A
- Huang, Sun
- Keren, Boris
- Mignot, Cyril
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Héron, Delphine
- Nava, Caroline
- Valence, Stéphanie
- Buratti, Julien
- Fagerberg, Christina R
- Soerensen, Kristina P
- Kibaek, Maria
- Kamsteeg, Erik-Jan
- Koolen, David A
- Gunning, Boudewijn
- Schelhaas, H Jurgen
- Kruer, Michael C
- Fox, Jordana
- Bakhtiari, Somayeh
- Jarrar, Randa
- Padilla-Lopez, Sergio
- Lindstrom, Kristin
- Jin, Sheng Chih
- Zeng, Xue
- Bilguvar, Kaya
- Papavasileiou, Antigone
- Xing, Qinghe
- Zhu, Changlian
- Boysen, Katja
- Vairo, Filippo
- Lanpher, Brendan C
- Klee, Eric W
- Tillema, Jan-Mendelt
- Payne, Eric T
- Cousin, Margot A
- Kruisselbrink, Teresa M
- Wick, Myra J
- Baker, Joshua
- Haan, Eric
- Smith, Nicholas
- Sadeghpour, Azita
- Davis, Erica E
- Katsanis, Nicholas
- Corbett, Mark A
- MacLennan, Alastair H
- Gecz, Jozef
- Biskup, Saskia
- Goldmann, Eva
- Rodan, Lance H
- Kichula, Elizabeth
- Segal, Eric
- Jackson, Kelly E
- Asamoah, Alexander
- Dimmock, David
- McCarrier, Julie
- Botto, Lorenzo D
- Filloux, Francis
- Tvrdik, Tatiana
- Cascino, Gregory D
- Klingerman, Sherry
- Neumann, Catherine
- Wang, Raymond
- Jacobsen, Jessie C
- Nolan, Melinda A
- Snell, Russell G
- Lehnert, Klaus
- Sadleir, Lynette G
- Anderlid, Britt-Marie
- Kvarnung, Malin
- Guerrini, Renzo
- Friez, Michael J
- Lyons, Michael J
- Leonhard, Jennifer
- Kringlen, Gabriel
- Casas, Kari
- El Achkar, Christelle M
- Smith, Lacey A
- Rotenberg, Alexander
- Poduri, Annapurna
- Sanchis-Juan, Alba
- Carss, Keren J
- Rankin, Julia
- Zeman, Adam
- Raymond, F Lucy
- Blyth, Moira
- Kerr, Bronwyn
- Ruiz, Karla
- Urquhart, Jill
- Hughes, Imelda
- Banka, Siddharth
- Hedrich, Ulrike B S
- Scheffer, Ingrid E
- Helbig, Ingo
- Zamponi, Gerald W
- Lerche, Holger
- Mefford, Heather C
Publication details: American journal of human genetics Mar 2019
In:
American journal of human genetics vol. 104
Availability: No items available.
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222.
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. [electronic resource] by
- Johnson, Brett V
- Kumar, Raman
- Oishi, Sabrina
- Alexander, Suzy
- Kasherman, Maria
- Vega, Michelle Sanchez
- Ivancevic, Atma
- Gardner, Alison
- Domingo, Deepti
- Corbett, Mark
- Parnell, Euan
- Yoon, Sehyoun
- Oh, Tracey
- Lines, Matthew
- Lefroy, Henrietta
- Kini, Usha
- Van Allen, Margot
- Grønborg, Sabine
- Mercier, Sandra
- Küry, Sébastien
- Bézieau, Stéphane
- Pasquier, Laurent
- Raynaud, Martine
- Afenjar, Alexandra
- Billette de Villemeur, Thierry
- Keren, Boris
- Désir, Julie
- Van Maldergem, Lionel
- Marangoni, Martina
- Dikow, Nicola
- Koolen, David A
- VanHasselt, Peter M
- Weiss, Marjan
- Zwijnenburg, Petra
- Sa, Joaquim
- Reis, Claudia Falcao
- López-Otín, Carlos
- Santiago-Fernández, Olaya
- Fernández-Jaén, Alberto
- Rauch, Anita
- Steindl, Katharina
- Joset, Pascal
- Goldstein, Amy
- Madan-Khetarpal, Suneeta
- Infante, Elena
- Zackai, Elaine
- Mcdougall, Carey
- Narayanan, Vinodh
- Ramsey, Keri
- Mercimek-Andrews, Saadet
- Pena, Loren
- Shashi, Vandana
- Schoch, Kelly
- Sullivan, Jennifer A
- Pinto E Vairo, Filippo
- Pichurin, Pavel N
- Ewing, Sarah A
- Barnett, Sarah S
- Klee, Eric W
- Perry, M Scott
- Koenig, Mary Kay
- Keegan, Catherine E
- Schuette, Jane L
- Asher, Stephanie
- Perilla-Young, Yezmin
- Smith, Laurie D
- Rosenfeld, Jill A
- Bhoj, Elizabeth
- Kaplan, Paige
- Li, Dong
- Oegema, Renske
- van Binsbergen, Ellen
- van der Zwaag, Bert
- Smeland, Marie Falkenberg
- Cutcutache, Ioana
- Page, Matthew
- Armstrong, Martin
- Lin, Angela E
- Steeves, Marcie A
- Hollander, Nicolette den
- Hoffer, Mariëtte J V
- Reijnders, Margot R F
- Demirdas, Serwet
- Koboldt, Daniel C
- Bartholomew, Dennis
- Mosher, Theresa Mihalic
- Hickey, Scott E
- Shieh, Christine
- Sanchez-Lara, Pedro A
- Graham, John M
- Tezcan, Kamer
- Schaefer, G B
- Danylchuk, Noelle R
- Asamoah, Alexander
- Jackson, Kelly E
- Yachelevich, Naomi
- Au, Margaret
- Pérez-Jurado, Luis A
- Kleefstra, Tjitske
- Penzes, Peter
- Wood, Stephen A
- Burne, Thomas
- Pierson, Tyler Mark
- Piper, Michael
- Gécz, Jozef
- Jolly, Lachlan A
Producer: 20210106
In:
Biological psychiatry vol. 87
Availability: No items available.
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