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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	Genes, Duplicate
Concept	Gene Expression Profiling
Concept	Gene Regulatory Networks
Concept	Gene Expression
Concept	Polymorphism, Single Nucleotide
Concept	Gene Rearrangement
Concept	Genes, Dominant
Concept	Sequence Homology
Concept	Genome, Human
Concept	Amino Acid Sequence
Concept	Sequence Homology, Amino Acid
Concept	Genetic Loci
Concept	Gene Frequency
Concept	Gene Duplication
Concept	Base Sequence
Concept	Alleles
Concept	Genes, Recessive
Concept	Molecular Sequence Data
Concept	Gene Expression Regulation, Developmental
Concept	Conserved Sequence
Concept	Gene Expression Regulation
Concept	RNA Splice Sites
Academic Article	Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.
Academic Article	Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article	Rare A2ML1 variants confer susceptibility to otitis media.
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	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	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	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	FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Academic Article	A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Academic Article	Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
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	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	Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Academic Article	Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Academic Article	Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
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	Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Grant	Otitis Media Susceptibility and Middle Ear Microbial Shifts due to Gene Variants
Academic Article	A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Academic Article	Identification of ASAH1 as a susceptibility gene for familial keloids.
Academic Article	A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.
Concept	Transcriptome
Concept	Exome
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	Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Academic Article	Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Academic Article	The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
Academic Article	Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Academic Article	Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Academic Article	Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Academic Article	De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Academic Article	Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Academic Article	Identification of Novel Genes and Biological Pathways That Overlap in Infectious and Nonallergic Diseases of the Upper and Lower Airways Using Network Analyses.
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	Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Academic Article	ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Academic Article	The FUT2 Variant c.461G>A (p.Trp154*) Is Associated With Differentially Expressed Genes and Nasopharyngeal Microbiota Shifts in Patients With Otitis Media.
Academic Article	Novel candidate genes for cholesteatoma in chronic otitis media.
Academic Article	Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

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