Pages that link to "Q87170801"
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The following pages link to Saima Riazuddin (Q87170801):
Displaying 50 items.
- Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan (Q21261466) (← links)
- PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 (Q24298183) (← links)
- Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (Q24299865) (← links)
- Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 (Q24300298) (← links)
- Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (Q24324444) (← links)
- Tricellulin is a tight-junction protein necessary for hearing (Q24337885) (← links)
- Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells (Q24338418) (← links)
- Mutations of MYO6 are associated with recessive deafness, DFNB37 (Q24532041) (← links)
- Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness (Q24540491) (← links)
- Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig. (Q27339602) (← links)
- A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family (Q28116585) (← links)
- Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function (Q28202014) (← links)
- Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus (Q28283551) (← links)
- Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse (Q28505655) (← links)
- Tricellulin deficiency affects tight junction architecture and cochlear hair cells. (Q28511757) (← links)
- An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans (Q28536871) (← links)
- Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish (Q29144889) (← links)
- Rare A2ML1 variants confer susceptibility to otitis media (Q30279096) (← links)
- MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear. (Q30378161) (← links)
- MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells (Q30391988) (← links)
- Molecular and clinical studies of X-linked deafness among Pakistani families (Q30471802) (← links)
- Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. (Q30484106) (← links)
- Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. (Q30493957) (← links)
- Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing (Q30494750) (← links)
- Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss (Q33647400) (← links)
- Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome (Q33816386) (← links)
- CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. (Q33854359) (← links)
- Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. (Q34137698) (← links)
- Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74 (Q34156544) (← links)
- A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (Q34366946) (← links)
- Increasing the complexity: new genes and new types of albinism. (Q34373327) (← links)
- Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42 (Q34560844) (← links)
- Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (Q34576838) (← links)
- Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. (Q34634062) (← links)
- Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans (Q34866333) (← links)
- Recent advances in the understanding of syndromic forms of hearing loss (Q35201411) (← links)
- MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin (Q35605938) (← links)
- Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p (Q35828580) (← links)
- GNAT1 associated with autosomal recessive congenital stationary night blindness (Q35921448) (← links)
- Mutation of ATF6 causes autosomal recessive achromatopsia (Q35929399) (← links)
- Challenges and solutions for gene identification in the presence of familial locus heterogeneity (Q35959689) (← links)
- Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss (Q36032680) (← links)
- Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. (Q36173698) (← links)
- Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families (Q36296154) (← links)
- Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy (Q36338204) (← links)
- Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population (Q36510428) (← links)
- USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. (Q36680172) (← links)
- Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population (Q36680215) (← links)
- Mutations of human TMHS cause recessively inherited non-syndromic hearing loss (Q36930179) (← links)
- Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration (Q36995728) (← links)