247 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. Whole genome sequencing data of multiple individuals of Pakistani descent
4. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
5. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
6. The role of CDHR3 in susceptibility to otitis media
7. A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
8. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
9. A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes
10. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss
11. Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
12. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
13. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function
14. Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels
15. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
16. Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes
17. Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells
18. Dual AAV-based PCDH15gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
19. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness
20. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
21. Syntaxin 4 is essential for hearing in human and zebrafish
22. Syntaxin 4 is essential for hearing in human and zebrafish.
23. Mutation of ATF6 causes autosomal recessive achromatopsia
24. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
25. Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
26. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
27. Genetic Modifiers of Hearing Loss
28. Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts
29. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
30. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
31. Author response: Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome
32. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
33. Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract
34. Identification and clinical characterization of Hermansky–Pudlak syndrome alleles in the Pakistani population
35. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population
36. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
37. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
38. Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse
39. Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families
40. Genetic Causes of Oculocutaneous Albinism in Pakistani Population
41. CIB2 regulates autophagy via Rheb-mTORC1 signaling axis
42. Loss of CIB2 causes non-canonical autophagy deficits and visual impairment
43. Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss
44. Retraction notice to “PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells” [Int. J. Biochem. Cell Biol. 109C (2019) 40–58]
45. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
46. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
47. Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness
48. Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6
49. Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology
50. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
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