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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 10, p. 2055, doi. 10.1093/hmg/ddt056
By:
- Lionel, Anath C.;
- Vaags, Andrea K.;
- Sato, Daisuke;
- Gazzellone, Matthew J.;
- Mitchell, Elyse B.;
- Hong Yang Chen;
- Costain, Gregory;
- Walker, Susan;
- Egger, Gerald;
- Thiruvahindrapuram, Bhooma;
- Merico, Daniele;
- Prasad, Aparna;
- Anagnostou, Evdokia;
- Fombonne, Eric;
- Zwaigenbaum, Lonnie;
- Roberts, Wendy;
- Szatmari, Peter;
- Fernandez, Bridget A.;
- Georgieva, Lyudmila;
- Brzustowicz, Linda M.
Publication type:
Article
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Published in:
Neurogenetics, 2014, v. 15, n. 2, p. 117, doi. 10.1007/s10048-014-0394-0
By:
- Egger, Gerald;
- Roetzer, Katharina;
- Noor, Abdul;
- Lionel, Anath;
- Mahmood, Huda;
- Schwarzbraun, Thomas;
- Boright, Oliver;
- Mikhailov, Anna;
- Marshall, Christian;
- Windpassinger, Christian;
- Petek, Erwin;
- Scherer, Stephen;
- Kaschnitz, Wolfgang;
- Vincent, John
Publication type:
Article
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0183-0
By:
- Rafiq, Muhammad Arshad;
- Leblond, Claire S.;
- Nadeem Saqib, Muhammad Arif;
- Vincent, Akshita K.;
- Ambalavanan, Amirthagowri;
- Khan, Falak Sher;
- Ayaz, Muhammad;
- Shaheen, Naseema;
- Spiegelman, Dan;
- Ali, Ghazanfar;
- Amin-ud-din, Muhammad;
- Laurent, Sandra;
- Mahmood, Huda;
- Christian, Mehtab;
- Ali, Nadir;
- Fennell, Alanna;
- Nanjiani, Zohair;
- Egger, Gerald;
- Caron, Chantal;
- Waqas, Ahmed
Publication type:
Article

Found: 3

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.