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Journal of Medical Genetics|August 6, 2017
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunctionMalte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, et al.European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.Scientific Reports|June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humansFabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.Scientific Reports|September 16, 2020
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-AdrenoleukodystrophyTim W Rattay, Maren Rautenberg, Anne S Söhn, et al.Orphanet Journal of Rare Diseases|April 19, 2015
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotypeJohannes Koch, Peter Freisinger, René G Feichtinger, et al.Journal for Immunotherapy of Cancer|July 17, 2021
Tumor rejection in Cblb-/- mice depends on IL-9 and Th9 cellsOliver Schanz, Isabelle Cornez, Sowmya Parampalli Yajnanarayana, et al.Clinical Genetics|July 30, 2020
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patientsAleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, et al.Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.Journal of Medical Genetics|June 26, 2026
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disabilityErik Hertstein, Miriam Bertrand, Johannes Kopp, et al.Pageof 39