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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	Genetic Predisposition to Disease
Academic Article	Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population.
Academic Article	Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Academic Article	Rare A2ML1 variants confer susceptibility to otitis media.
Academic Article	Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Academic Article	A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
Academic Article	COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
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	Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.
Academic Article	FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Academic Article	MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Academic Article	Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
Academic Article	TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Academic Article	DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
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	Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Academic Article	Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Academic Article	Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Academic Article	Panel 3: Genomics, precision medicine and targeted therapies.
Academic Article	Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Academic Article	Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies.
Academic Article	The role of CDHR3 in susceptibility to otitis media.

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Genetic Predisposition to Disease