Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency

Autor: Sacharow, Stephanie J., Dudenhausen, Elizabeth E., Lomelino, Carrie L., Rodan, Lance, El Achkar, Christelle Moufawad, Olson, Heather E., Genetti, Casie A., Agrawal, Pankaj B., McKenna, Robert, Kilberg, Michael S.

Publikováno v: In Molecular Genetics and Metabolism March 2018 123(3):317-325

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

Autor: Hedges Dale J, Hamilton-Nelson Kara L, Sacharow Stephanie J, Nations Laura, Beecham Gary W, Kozhekbaeva Zhanna M, Butler Brittany L, Cukier Holly N, Whitehead Patrice L, Ma Deqiong, Jaworski James M, Nathanson Lubov, Lee Joycelyn M, Hauser Stephen L, Oksenberg Jorge R, Cuccaro Michael L, Haines Jonathan L, Gilbert John R, Pericak-Vance Margaret A

Publikováno v: Molecular Autism, Vol 3, Iss 1, p 2 (2012)

Abstract Background Autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders characterized by a core set of social-communicative and behavioral impairments. Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmit

Externí odkaz: https://doaj.org/article/38af1a4c3f014cc3b6d5997f760de608

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Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

Autor: Laura D. Nations, Michael L. Cuccaro, Jorge R. Oksenberg, Joycelyn M. Lee, Deqiong Ma, Jonathan L. Haines, Zhanna Kozhekbaeva, Dale J. Hedges, Stephen L. Hauser, Lubov Nathanson, Margaret A. Pericak-Vance, Patrice L. Whitehead, Holly N. Cukier, Stephanie Sacharow, Kara L. Hamilton-Nelson, James M. Jaworski, Brittany L. Butler, Gary W. Beecham, John R. Gilbert

Publikováno v: Molecular Autism
Molecular Autism, Vol 3, Iss 1, p 2 (2012)
Hedges, Dale J; Hamilton-Nelson, Kara L; Sacharow, Stephanie J; Nations, Laura; Beecham, Gary W; Kozhekbaeva, Zhanna M; et al.(2012). Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Molecular Autism, 3(1), 2. doi: http://dx.doi.org/10.1186/2040-2392-3-2. Retrieved from: http://www.escholarship.org/uc/item/7cm6818d
Hedges, DJ; Hamilton-Nelson, KL; Sacharow, SJ; Nations, L; Beecham, GW; Kozhekbaeva, ZM; et al.(2012). Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Molecular Autism, 3(1). doi: 10.1186/2040-2392-3-2. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/733602q7

Background Autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders characterized by a core set of social-communicative and behavioral impairments. Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539eebe2028f7bf9867b1372bb1cfe02
https://pubmed.ncbi.nlm.nih.gov/22472195