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Search Results to Regie Lyn P. Santos-Cortez

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

Item TypeName
Concept Hearing Loss
Concept Hearing Loss, Sensorineural
Academic Article Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Academic Article Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Academic Article Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Academic Article Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Academic Article Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.
Academic Article A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
Academic Article Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Academic Article Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Academic Article Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Academic Article Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
Academic Article DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.
Academic Article Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.
Academic Article The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.
Academic Article Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
Academic Article A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Academic Article Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
Academic Article A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.
Academic Article Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.
Academic Article DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Academic Article Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Academic Article A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
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 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
Academic Article Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Academic Article The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Academic Article Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Academic Article Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

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