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Human Mutation|January 4, 2020
Further delineation of putative ACTB loss-of-function variants: A 4-patient seriesMatthias Baumann, Erin M Beaver, María Palomares-Bralo, et al.
Clinical Journal of the American Society of Nephrology : CJASN|July 11, 2009
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failureKarl Lhotta, Andreas R Janecke, Johanna Scheiring, et al.
The Journal of Investigative Dermatology|June 19, 2009
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growthSandra M Pasternack, Ivar von Kügelgen, Melanie Müller, et al.
International Journal of Obesity (2005)|September 14, 2024
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiencyBenno Kohlmaier, Kristijan Skok, Carolin Lackner, et al.
Brain : a Journal of Neurology|May 26, 2021
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasisPauline E Schneeberger, Sheela Nampoothiri, Tess Holling, et al.
Human Genetics|April 20, 2020
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defectKatharina M C Klee, Andreas R Janecke, Hasret A Civan, et al.
Human Genetics|March 26, 2025
Congenital enteropathy caused by ezrin deficiencyGeorg F Vogel, Katharina M C Klee, Arzu Meltem Demir, et al.
Human Mutation|May 28, 2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channelKatja Koeppen, Peggy Reuter, Thomas Ladewig, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndromeRudolf Glueckert, Helge Rask-Andersen, Consolato Sergi, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlationMatthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, et al.
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