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Nature genetics, ISSN 1061-4036, 06/2019, Volume 51, Issue 7, pp. 1092 - 1092
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals . Genome-wide association and large-scale sequencing studies strongly implicate both common... 
LOCALIZATION | DICARBOXYLIC AMINOACIDURIA | DE-NOVO MUTATIONS | RARE | PET-1 | GLUTAMATE | GENETICS & HEREDITY | RISK | TRANSCRIPTION FACTOR | GABA SYNTHESIS | ASSOCIATION | Haplotypes | ETS protein | USH2A protein | Transcription factors | Circuits | Genes | Genomics | Genomes | Gene expression | Gene sequencing | Autism | Missense mutation | Brain research | Mutation | Disruption | Females
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 184 - 193
Journal Article
PLOS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, pp. e108721 - e108721
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 09/2017, Volume 8, pp. 529 - 541
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are... 
CRISPR | RNPs | c.2299delG | USH2A | gene editing | Usher syndrome | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | RNA | USHER-SYNDROME | HUMAN-CELLS | DNA | IN-VIVO | MOUSE MODEL | DOUBLE-STRAND BREAK | GENOME | DELIVERY
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 12/2018, Volume 18, Issue 6, pp. 5016 - 5022
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e74995 - e74995
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 11/2018, Volume 39, Issue 6, pp. 706 - 713
Background: Usher syndrome (USH) is heterogeneous in nature and requires genetic test for diagnosis and management. Mutations in USH associated genes are... 
gene therapy | MYO7A | Russian cohort | USH2A | Usher syndrome | HETEROGENEITY | USH2A GENE | MOLECULAR DIAGNOSIS | GENETICS & HEREDITY | OPHTHALMOLOGY | IDENTIFICATION | MUTATION SPECTRUM | Index Medicus
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, pp. 147 - 150
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 6, pp. 869 - 878
Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern... 
SURVIVAL | CYTOARCHITECTURE | POPULATION | GJB2 | W24X MUTATION | MAP3K1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | HEALTH | Calponin | Hearing | USH2A protein | Preservation | Etiology | Hair cells | Homology | Scaling | Genetic diversity | Hearing impairment | Population genetics | Multidimensional scaling
Journal Article