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Translational Research : the Journal of Laboratory and Clinical Medicine|November 14, 2018
Glycomics in rare diseases: from diagnosis tomechanismMariska Davids, Megan S Kane, Lynne A Wolfe, et al.American Journal of Medical Genetics. Part A|May 17, 2023
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorderAdam P Sage, Hyun Kyung Lee, Joshua Dalmann, et al.Human Genomics|May 1, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disordersShruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, et al.Annals of Clinical and Translational Neurology|January 6, 2026
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic ParaplegiaHabibah A P Agianda, Hyo-Min Kim, Nicole Battaglia, et al.Nature Communications|February 8, 2014
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathyHongjie Yuan, Kasper B Hansen, Jing Zhang, et al.Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.Molecular Genetics and Metabolism|January 27, 2012
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution functionThomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, et al.Journal of Medical Genetics|May 30, 2025
Using long-read sequencing to detect and subtype a case with Temple syndromeSarah Dada, Vahid Akbari, Duha Hejla, et al.BMC Medical Genomics|March 15, 2022
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasetsPraveen F Cherukuri, Melissa M Soe, David E Condon, et al.American Journal of Medical Genetics. Part A|September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationLaila Shehata, Dimitre R Simeonov, Anja Raams, et al.Pageof 14