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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Published in:
2015
By:
- Jansen, Laura A;
- Mirzaa, Ghayda M;
- Ishak, Gisele E;
- O'Roak, Brian J;
- Hiatt, Joseph B;
- Roden, William H;
- Gunter, Sonya A;
- Christian, Susan L;
- Collins, Sarah;
- Adams, Carissa;
- Rivière, Jean-Baptiste;
- St-Onge, Judith;
- Ojemann, Jeffrey G;
- Shendure, Jay;
- Hevner, Robert F;
- Dobyns, William B
Publication type:
journal article
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2879, doi. 10.1002/ajmg.a.36707
By:
- Mirzaa, Ghayda M.;
- Enyedi, Laura;
- Parsons, Gretchen;
- Collins, Sarah;
- Medne, Livija;
- Adams, Carissa;
- Ward, Thomas;
- Davitt, Bradley;
- Bicknese, Alma;
- Zackai, Elaine;
- Toriello, Helga;
- Dobyns, William B.;
- Christian, Susan
Publication type:
Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
By:
- Mirzaa, Ghayda M;
- Parry, David A;
- Fry, Andrew E;
- Giamanco, Kristin A;
- Schwartzentruber, Jeremy;
- Vanstone, Megan;
- Logan, Clare V;
- Roberts, Nicola;
- Johnson, Colin A;
- Singh, Shawn;
- Kholmanskikh, Stanislav S;
- Adams, Carissa;
- Hodge, Rebecca D;
- Hevner, Robert F;
- Bonthron, David T;
- Braun, Kees P J;
- Faivre, Laurence;
- Rivière, Jean-Baptiste;
- St-Onge, Judith;
- Gripp, Karen W
Publication type:
Article
Recall of Schematic and Non-Schematic Material Related to Threat in Blood Fearful and Nonfearful Individuals.
Published in:
Behavioural & Cognitive Psychotherapy, 2006, v. 34, n. 1, p. 79, doi. 10.1017/s1352465805002444
By:
- Amy Wenzel;
- Carissa Adams;
- Melanie Goyette
Publication type:
Article

Found: 4

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Recall of Schematic and Non-Schematic Material Related to Threat in Blood Fearful and Nonfearful Individuals.