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Gastroenterology|March 15, 2011
Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overloadRoman Mayr, William J H Griffiths, Martin Hermann, et al.
European Journal of Medical Genetics|December 22, 2010
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patientsLea Papić, Dirk Fischer, Slave Trajanoski, et al.
Children (Basel, Switzerland)|December 23, 2022
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver TransplantationAnna M Kavallar, Franka Messner, Stefan Scheidl, et al.
Nature Genetics|July 20, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke, Debra A Thompson, Gerd Utermann, et al.
Traffic (Copenhagen, Denmark)|October 22, 2013
Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarityCornelia E Thoeni, Georg F Vogel, Ivan Tancevski, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutationsGabriel Miltenberger-Miltenyi, Thomas Schwarzbraun, Wolfgang N Löscher, et al.
Human Molecular Genetics|August 28, 2015
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver diseaseBenedikt Schaefer, David Haschka, Armin Finkenstedt, et al.
Human Mutation|November 10, 2019
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageShuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al.
Journal of Clinical Medicine|April 30, 2021
Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B MutationsMichael W Hess, Iris M Krainer, Przemyslaw A Filipek, et al.
Clinical and Translational Gastroenterology|November 19, 2021
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C MutationsAnke H M van Vugt, Marcel J C Bijvelds, Hugo R de Jonge, et al.
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