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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.
Calcified Tissue International|August 29, 2012
Restoration of bone mineralization by cinacalcet is associated with a significant reduction in calcitriol-induced vascular calcification in uremic ratsTineke M De Schutter, Geert J Behets, Susanne Jung, et al.
Circulation|July 3, 2002
Advanced coronary and carotid arteriopathy in young adults with childhood-onset chronic renal failureJun Oh, Rainer Wunsch, Martin Turzer, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 4, 2015
The matrix metalloproteinases 2 and 9 initiate uraemic vascular calcificationsEva Hecht, Christian Freise, Karoline V Websky, 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.
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