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The Journal of Pediatrics|February 5, 2004
Joubert-like syndrome unlinked to known candidate lociAndreas R Janecke, Thomas Müller, Ingmar Gassner, et al.Journal of Human Genetics|January 30, 2010
Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from AustriaAndreas R Janecke, Joan E Willett-Brozick, Christoph Karas, et al.European Journal of Human Genetics : EJHG|March 24, 2020
Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlationGeorg-Friedrich Vogel, Elisabeth Maurer, Andreas Entenmann, et al.Clinical Genetics|February 1, 2025
Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a FamilyLeah M Huber, Aslı Subaşıoğlu, Dorota Garczarczyk-Asim, et al.The Journal of Cell Biology|November 11, 2015
Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3Georg F Vogel, Katharina M C Klee, Andreas R Janecke, et al.Genes|November 27, 2021
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single FamilySandy Siegert, Gabriel T Mindler, Christof Brücke, et al.Genes|April 28, 2023
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site VariantJulia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, et al.Clinical Genetics|June 20, 2020
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyriaStephanie Waich, Andreas R Janecke, Walther Parson, et al.The Journal of Pediatrics|November 3, 2004
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1Andreas R Janecke, Susanne Dertinger, Uwe-Peter Ketelsen, et al.Archives of Neurology|July 11, 2007
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi, Andreas R Janecke, Julia V Wanschitz, et al.Pageof 13