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Molecular Genetics and Metabolism|October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challengesVidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.International Journal of Molecular Sciences|February 25, 2023
Novel Variants of SOX4 in Patients with Intellectual DisabilityMartin Grosse, Alma Kuechler, Tabib Dabir, et al.Plos Medicine|July 13, 2026
Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support studyMichael C Thrun, Jörg Hoffmann, Stefan W Krause, et al.Pediatric Rheumatology Online Journal|November 25, 2016
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular courseTilmann Kallinich, Anne Thorwarth, Sae-Lim von Stuckrad, et al.Journal of Medical Genetics|November 20, 2012
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type AUmm-e- Kalsoom, Eva Klopocki, Naveed Wasif, et al.Molecular Syndromology|October 3, 2024
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs SyndromeMiriam Bertrand, Gulalai Shah, Brent S Pedersen, et al.Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.Molecular Genetics & Genomic Medicine|February 10, 2023
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndromeDennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, et al.Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.European Journal of Medical Genetics|May 4, 2020
Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, et al.Pageof 39