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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 13, 2024. (Total: 234352Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Intellectual Disability and IQSEC2[original query]
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
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
European journal of medical genetics 2019 8 63 (3): 103735.
Barrie Elizabeth S, Cottrell Catherine E, Gastier-Foster Julie, Hickey Scott E, Patel Anup D, Santoro Stephanie L, Alfaro Maria
Whole genome sequencing of 45 Japanese patients with intellectual disability.
American journal of medical genetics. Part A 2021 2 185 (5): 1468-1480.
Abe-Hatano Chihiro, Iida Aritoshi, Kosugi Shunichi, Momozawa Yukihide, Terao Chikashi, Ishikawa Keiko, Okubo Mariko, Hachiya Yasuo, Nishida Hiroya, Nakamura Kazuyuki, Miyata Rie, Murakami Chie, Takahashi Kan, Hoshino Kyoko, Sakamoto Haruko, Ohta Sayaka, Kubota Masaya, Takeshita Eri, Ishiyama Akihiko, Nakagawa Eiji, Sasaki Masayuki, Kato Mitsuhiro, Matsumoto Naomichi, Kamatani Yoichiro, Kubo Michiaki, Takahashi Yoshiyuki, Natsume Jun, Inoue Ken, Goto Yu-Ic
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Epilepsy research 2021 1 170 106552.
Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.
Clinical genetics 2022 3 102 (1): 72-77.
Shoubridge Cheryl, Dudding-Byth Tracy, Pasquier Laurent, Goel Himanshu, Yap Patrick, McConnell Vivien
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
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