Showing results (91-100 of 95) with videos related to
Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 95 results.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.Nature Communications|March 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integrationStefan Groeneweg, Ferdy S van Geest, Mariano Martín, et al.Pageof 10