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UnknownIdentification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
Not available
S-EPMC1181950 | biostudies-literature
UnknownUsher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Not available
S-EPMC9556359 | biostudies-literature
UnknownUncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Not available
S-EPMC11711235 | biostudies-literature
UnknownHeterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Not available
S-EPMC4326711 | biostudies-literature
UnknownChromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Not available
S-EPMC2563232 | biostudies-literature
UnknownFurther delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Not available
S-EPMC4538199 | biostudies-literature
UnknownStructural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Not available
S-EPMC2986218 | biostudies-literature
UnknownAllelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Not available
S-EPMC4667106 | biostudies-literature
UnknownThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Not available
S-EPMC9822884 | biostudies-literature
UnknownExome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Not available
S-EPMC11522133 | biostudies-literature
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