Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

Connection

Search Results to Regie Lyn P. Santos-Cortez

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

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

Item TypeName
Concept Mutation, Missense
Academic Article Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Academic Article Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
Academic Article A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
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 Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.
Academic Article Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
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.
Academic Article Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Academic Article Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Academic Article MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
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 Multi-omic studies on missense PLG variants in families with otitis media.

Search Criteria
  • Mutation Missense

Copyright © 2024 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.11.1)