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Proceedings of the National Academy of Sciences of the United States of America|January 1, 2008
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitabilityStefan Jacobs, Eva Ruusuvuori, Sampsa T Sipilä, et al.Familial Cancer|July 31, 2021
Unusual phenotypes in patients with a pathogenic germline variant in DICER1Kateryna Venger, Miriam Elbracht, Julia Carlens, et al.Clinical Epigenetics|March 1, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approachLarissa Bilo, Eguzkine Ochoa, Sunwoo Lee, et al.Nature Communications|December 10, 2015
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutantEnrico Leipold, Andrea Hanson-Kahn, Miya Frick, et al.Nature Communications|December 5, 2024
Label-free single-cell RNA multiplexing leveraging genetic variabilityKonrad Hoeft, Tore Bleckwehl, David Schumacher, et al.Channels (Austin, Tex.)|January 25, 2021
Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effectKim Le Cann, Jannis E Meents, Vishal Sudha Bhagavath Eswaran, et al.Clinical Genetics|January 7, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and HyperphagiaOzge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, et al.Neuropediatrics|April 28, 2025
Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic PainAnnegret Quade, Annette Lischka, Simone Albani, et al.Cell Reports|May 17, 2018
Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane TetheringMichiel Krols, Sammy Detry, Bob Asselbergh, et al.American Journal of Human Genetics|June 19, 2012
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type VChristian Beetz, Thomas R Pieber, Nicole Hertel, et al.Pageof 15