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Blood Cells, Molecules & Diseases|November 29, 2007
A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patientsDorine W Swinkels, Hanka Venselaar, Erwin T Wiegerinck, et al.
Scientific Reports|April 5, 2017
A Gate Hinge Controls the Epithelial Calcium Channel TRPV5Jenny van der Wijst, Elizabeth H Leunissen, Maxime G Blanchard, et al.
Human Genetics|August 23, 2008
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndromeZubair M Ahmed, Saima Riazuddin, Sandar Aye, et al.
American Journal of Human Genetics|September 5, 2017
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated GenesStefan H Lelieveld, Laurens Wiel, Hanka Venselaar, et al.
Plos One|November 22, 2013
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15)Hee-Jin Kim, Hong-Hee Won, Kyoung-Jin Park, et al.
The Journal of Biological Chemistry|March 9, 2012
Membrane topology and intracellular processing of cyclin M2 (CNNM2)Jeroen H F de Baaij, Marchel Stuiver, Iwan C Meij, et al.
BMJ Open Diabetes Research & Care|December 20, 2024
A rare homozygous INS variant causes adult-onset diabetesRoel Tans, Tine Glendorf, Antonius E van Herwaarden, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 8, 2014
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisWybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in musclePaulien Smits, Hana Antonicka, Peter M van Hasselt, et al.
The Journal of Biological Chemistry|October 13, 2006
Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligandsSebastian P van der Woning, Walter van Rotterdam, Sander B Nabuurs, et al.
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