Showing results (51-60 of 166) with videos related to

Sort By:
Pageof 17
Molecular Cytogenetics|July 23, 2025
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomesMichal Schweiger, André Reis, Esen Gümüslü, et al.
American Journal of Medical Genetics. Part A|March 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variantSarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
Orphanet Journal of Rare Diseases|October 22, 2014
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, et al.
Epilepsia|March 17, 2023
Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleepLena-Luise Becker, Denise Horn, Felix Boschann, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndromeVanessa A van Rahden, Erika Fernandez-Vizarra, Malik Alawi, et al.
International Journal of Molecular Sciences|September 9, 2022
Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca<sup>2+</sup> Sensitivity of the ChannelChristiane K Bauer, Tess Holling, Denise Horn, et al.
European Journal of Pediatrics|October 13, 2007
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHEva Klopocki, Luitgard M Graul-Neumann, Ulrike Grieben, et al.
Gene|February 9, 2010
Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by PyrosequencingMarcel Kramer, Oliver Backhaus, Philip Rosenstiel, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaKatja Stange, Julie Désir, Naseebullah Kakar, et al.
Pageof 17