Results
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1.
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Recurrent homozygous damaging mutation in [electronic resource] by
- Ghosh, Shereen Georges
- Wang, Lu
- Breuss, Martin W
- Green, Joshua D
- Stanley, Valentina
- Yang, Xiaoxu
- Ross, Danica
- Traynor, Bryan J
- Alhashem, Amal M
- Azam, Matloob
- Selim, Laila
- Bastaki, Laila
- Elbastawisy, Hanan I
- Temtamy, Samia
- Zaki, Maha
- Gleeson, Joseph G
Producer: 20210204
In:
Journal of medical genetics vol. 57
Availability: No items available.
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2.
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. [electronic resource] by
- Wenderski, Wendy
- Wang, Lu
- Krokhotin, Andrey
- Walsh, Jessica J
- Li, Hongjie
- Shoji, Hirotaka
- Ghosh, Shereen
- George, Renee D
- Miller, Erik L
- Elias, Laura
- Gillespie, Mark A
- Son, Esther Y
- Staahl, Brett T
- Baek, Seung Tae
- Stanley, Valentina
- Moncada, Cynthia
- Shipony, Zohar
- Linker, Sara B
- Marchetto, Maria C N
- Gage, Fred H
- Chen, Dillon
- Sultan, Tipu
- Zaki, Maha S
- Ranish, Jeffrey A
- Miyakawa, Tsuyoshi
- Luo, Liqun
- Malenka, Robert C
- Crabtree, Gerald R
- Gleeson, Joseph G
Producer: 20200728
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 117
Availability: No items available.
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3.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. [electronic resource] by
- Ghosh, Shereen G
- Becker, Kerstin
- Huang, He
- Dixon-Salazar, Tracy
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M
- Efthymiou, Stephanie
- Hanna, Michael G
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M
- Wolf, Nicole I
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G
Publication details: American journal of human genetics 11 2018
In:
American journal of human genetics vol. 103
Availability: No items available.
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4.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. [electronic resource] by
- Ghosh, Shereen G
- Becker, Kerstin
- Huang, He
- Dixon-Salazar, Tracy
- Chai, Guoliang
- Salpietro, Vincenzo
- Al-Gazali, Lihadh
- Waisfisz, Quinten
- Wang, Haicui
- Vaux, Keith K
- Stanley, Valentina
- Manole, Andreea
- Akpulat, Ugur
- Weiss, Marjan M
- Efthymiou, Stephanie
- Hanna, Michael G
- Minetti, Carlo
- Striano, Pasquale
- Pisciotta, Livia
- De Grandis, Elisa
- Altmüller, Janine
- Nürnberg, Peter
- Thiele, Holger
- Yis, Uluc
- Okur, Tuncay Derya
- Polat, Ayse Ipek
- Amiri, Nafise
- Doosti, Mohammad
- Karimani, Ehsan Ghayoor
- Toosi, Mehran B
- Haddad, Gabriel
- Karakaya, Mert
- Wirth, Brunhilde
- van Hagen, Johanna M
- Wolf, Nicole I
- Maroofian, Reza
- Houlden, Henry
- Cirak, Sebahattin
- Gleeson, Joseph G
Publication details: American journal of human genetics 09 2018
In:
American journal of human genetics vol. 103
Availability: No items available.
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