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Search Results to Regie Lyn P. Santos-Cortez

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Search Results

Santos-Cortez, Regie Lyn

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

Item Type	Name
Concept	Chromosomes, Human, Pair 12
Concept	Chromosomes, Human, Pair 16
Concept	Chromosomes, Human, Pair 17
Concept	Chromosomes, Human, Pair 14
Concept	Physical Chromosome Mapping
Concept	Chromosomes, Human, Pair 1
Concept	Chromosomes, Human, Pair 19
Concept	Chromosomes, Human, Pair 3
Concept	Chromosomes, Human, Pair 20
Concept	Chromosomes, Human, Pair 4
Concept	Chromosome Segregation
Concept	Chromosomes, Human, Pair 21
Concept	Chromosome Mapping
Concept	Chromosome Aberrations
Concept	Chromosomes, Human, Pair 7
Concept	Chromosomes, Human, Pair 2
Academic Article	Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article	Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
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	Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Academic Article	Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Academic Article	TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
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	DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Academic Article	Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Academic Article	A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
Academic Article	Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Academic Article	Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

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X Chromosome