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Search Results to Regie Lyn P. Santos-Cortez

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Santos-Cortez, Regie Lyn

One or more keywords matched the following items that are connected to Santos-Cortez, Regie Lyn

Item Type	Name
Concept	Pakistan
Academic Article	Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Academic Article	Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Academic Article	Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Academic Article	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
Academic Article	Mutation of ATF6 causes autosomal recessive achromatopsia.
Academic Article	Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Academic Article	Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.
Academic Article	A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Academic Article	Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
Academic Article	Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Academic Article	Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Academic Article	Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article	A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Academic Article	A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.
Academic Article	Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Academic Article	Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

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Pakistan