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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	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.
Academic Article	Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants.
Academic Article	Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.
Academic Article	ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Grant	Genetic and epigenomic determinants of hearing loss in Hispanic populations

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Hearing