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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. [electronic resource] by
- Myers, Candace T
- Stong, Nicholas
- Mountier, Emily I
- Helbig, Katherine L
- Freytag, Saskia
- Sullivan, Joseph E
- Ben Zeev, Bruria
- Nissenkorn, Andreea
- Tzadok, Michal
- Heimer, Gali
- Shinde, Deepali N
- Rezazadeh, Arezoo
- Regan, Brigid M
- Oliver, Karen L
- Ernst, Michelle E
- Lippa, Natalie C
- Mulhern, Maureen S
- Ren, Zhong
- Poduri, Annapurna
- Andrade, Danielle M
- Bird, Lynne M
- Bahlo, Melanie
- Berkovic, Samuel F
- Lowenstein, Daniel H
- Scheffer, Ingrid E
- Sadleir, Lynette G
- Goldstein, David B
- Mefford, Heather C
- Heinzen, Erin L
Producer: 20171016
In:
American journal of human genetics vol. 101
Availability: No items available.
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. [electronic resource] by
- Satterstrom, F Kyle
- Kosmicki, Jack A
- Wang, Jiebiao
- Breen, Michael S
- De Rubeis, Silvia
- An, Joon-Yong
- Peng, Minshi
- Collins, Ryan
- Grove, Jakob
- Klei, Lambertus
- Stevens, Christine
- Reichert, Jennifer
- Mulhern, Maureen S
- Artomov, Mykyta
- Gerges, Sherif
- Sheppard, Brooke
- Xu, Xinyi
- Bhaduri, Aparna
- Norman, Utku
- Brand, Harrison
- Schwartz, Grace
- Nguyen, Rachel
- Guerrero, Elizabeth E
- Dias, Caroline
- Betancur, Catalina
- Cook, Edwin H
- Gallagher, Louise
- Gill, Michael
- Sutcliffe, James S
- Thurm, Audrey
- Zwick, Michael E
- Børglum, Anders D
- State, Matthew W
- Cicek, A Ercument
- Talkowski, Michael E
- Cutler, David J
- Devlin, Bernie
- Sanders, Stephan J
- Roeder, Kathryn
- Daly, Mark J
- Buxbaum, Joseph D
Producer: 20200821
In:
Cell vol. 180
Availability: No items available.
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes. [electronic resource] by
- Mulhern, Maureen S
- Stumpel, Constance
- Stong, Nicholas
- Brunner, Han G
- Bier, Louise
- Lippa, Natalie
- Riviello, James
- Rouhl, Rob P W
- Kempers, Marlies
- Pfundt, Rolph
- Stegmann, Alexander P A
- Kukolich, Mary K
- Telegrafi, Aida
- Lehman, Anna
- Lopez-Rangel, Elena
- Houcinat, Nada
- Barth, Magalie
- den Hollander, Nicolette
- Hoffer, Mariette J V
- Weckhuysen, Sarah
- Roovers, Jolien
- Djemie, Tania
- Barca, Diana
- Ceulemans, Berten
- Craiu, Dana
- Lemke, Johannes R
- Korff, Christian
- Mefford, Heather C
- Meyers, Candace T
- Siegler, Zsuzsanna
- Hiatt, Susan M
- Cooper, Gregory M
- Bebin, E Martina
- Snijders Blok, Lot
- Veenstra-Knol, Hermine E
- Baugh, Evan H
- Brilstra, Eva H
- Volker-Touw, Catharina M L
- van Binsbergen, Ellen
- Revah-Politi, Anya
- Pereira, Elaine
- McBrian, Danielle
- Pacault, Mathilde
- Isidor, Bertrand
- Le Caignec, Cedric
- Gilbert-Dussardier, Brigitte
- Bilan, Frederic
- Heinzen, Erin L
- Goldstein, David B
- Stevens, Servi J C
- Sands, Tristan T
Producer: 20190821
In:
Annals of neurology vol. 84
Availability: No items available.
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