HuGE Literature Finder
Records
1
-
4
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1894. Mosallaei Meysam, Ehtesham Naeim, Beheshtian Maryam, Khoshbakht Shahrouz, Davarnia Behzad, Kahrizi Kimia, Najmabadi Hosse |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25. Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur |
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features. European journal of medical genetics 2015 May 58 (5): 324-7. Fieremans Nathalie, Van Esch Hilde, de Ravel Thomy, Van Driessche Jozef, Belet Stefanie, Bauters Marijke, Froyen G |
Next-generation sequencing in X-linked intellectual disability. European journal of human genetics : EJHG 2015 Feb . Tzschach Andreas, Grasshoff Ute, Beck-Woedl Stefanie, Dufke Claudia, Bauer Claudia, Kehrer Martin, Evers Christina, Moog Ute, Oehl-Jaschkowitz Barbara, Di Donato Nataliya, Maiwald Robert, Jung Christine, Kuechler Alma, Schulz Solveig, Meinecke Peter, Spranger Stephanie, Kohlhase Jürgen, Seidel Jörg, Reif Silke, Rieger Manuela, Riess Angelika, Sturm Marc, Bickmann Julia, Schroeder Christopher, Dufke Andreas, Riess Olaf, Bauer Pet |
- Page last reviewed:Jul 25, 2022
- Page last updated:Jan 27, 2023
- Content source: