30 results on '"Riazuddin, Saima"'
Search Results
2. Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
3. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
4. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
5. The role of CDHR3 in susceptibility to otitis media
6. A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
7. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
8. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function
9. Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
10. Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells
11. Dual AAV-based PCDH15gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
12. Syntaxin 4 is essential for hearing in human and zebrafish
13. Syntaxin 4 is essential for hearing in human and zebrafish.
14. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
15. Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
16. Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts
17. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
18. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
19. Author response: Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
20. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
21. Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract
22. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
23. Biallelic in-frame deletion of SOX4is associated with developmental delay, hypotonia and intellectual disability
24. ADAMTS1, MPDZ, MVD, and SEZ6:candidate genes for autosomal recessive nonsyndromic hearing impairment
25. Biallelic variants in TMEM222cause a new autosomal recessive neurodevelopmental disorder
26. Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
27. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
28. Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels.
29. Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells.
30. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
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