Showing results (181-190 of 305) with videos related to
Sort By:
Pageof 31
Nature|May 24, 2023
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyHector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, et al.Biorxiv : the Preprint Server for Biology|September 26, 2025
A Universal Duplex Sequencing Approach for Accurate Detection of Somatic MutationsShuvro P Nandi, Yuhe Cheng, Shams Al-Azzam, et al.American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.Cell|December 3, 2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum DisorderDora C Tărlungeanu, Elena Deliu, Christoph P Dotter, et al.American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.Annals of Clinical and Translational Neurology|May 14, 2025
HPDL Variant Type Correlates With Clinical Disease Onset and SeverityEun Hye Lee, Olivia Kim-Mcmanus, Jennifer H Yang, et al.Pageof 31