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Journal of Medical Genetics|April 19, 2014
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like diseaseEmilia Balboa-Beltran, María J Fernández-Seara, Alejandro Pérez-Muñuzuri, et al.Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.Journal of Medical Genetics|April 8, 2014
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratoriesChizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, et al.Journal of Medical Genetics|March 27, 2014
A comprehensive association analysis confirms ZMIZ1 to be a susceptibility gene for vitiligo in Chinese populationYonghu Sun, Xianbo Zuo, Xiaodong Zheng, et al.Journal of Medical Genetics|March 27, 2014
Genome-wide association study identifies new disease loci for isolated clubfootTian-Xiao Zhang, Gabe Haller, Peng Lin, et al.Journal of Medical Genetics|March 8, 2017
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosisPatrick Frosk, Heleen H Arts, Julien Philippe, et al.Journal of Medical Genetics|March 11, 2017
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.Journal of Medical Genetics|August 1, 1987
Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16M L Watson, A F Wright, A M Macnicol, et al.Journal of Medical Genetics|October 7, 2016
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.Journal of Medical Genetics|November 5, 2016
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisGaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, et al.Pageof 649