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European Journal of Human Genetics : EJHG|December 14, 2006
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgarisRobert Gruber, Andreas R Janecke, Christine Fauth, et al.Journal of Pediatric Gastroenterology and Nutrition|October 22, 2015
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site MutationBettina Härter, Irene Fuchs, Thomas Müller, et al.The British Journal of Ophthalmology|November 13, 2012
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish familyMarkus Ritter, Julia Vodopiutz, Silvia Lechner, et al.European Journal of Human Genetics : EJHG|June 29, 2012
Inherited ichthyoses/generalized Mendelian disorders of cornificationMatthias Schmuth, Verena Martinz, Andreas R Janecke, et al.Molecular Genetics & Genomic Medicine|July 14, 2026
Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual DisabilityJulia S Singer, Dorota Garczarczyk-Asim, Miriam Michel, et al.Molecular Genetics & Genomic Medicine|January 20, 2021
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathyEdda Haberlandt, Taras Valovka, Tanja Janjic, et al.Molecular Genetics & Genomic Medicine|July 1, 2022
Further delineation of SLC9A3-related congenital sodium diarrheaEma Bogdanic, Thomas Müller, Peter Heinz-Erian, et al.Molecular and Cellular Pediatrics|February 3, 2016
Towards understanding microvillus inclusion diseaseGeorg F Vogel, Michael W Hess, Kristian Pfaller, et al.Wiener Klinische Wochenschrift|October 19, 2007
CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohortHeinz Zoller, Margit Egg, Ivo Graziadei, et al.Journal of Hepatology|August 10, 2010
Ferroportin disease: a systematic meta-analysis of clinical and molecular findingsRoman Mayr, Andreas R Janecke, Melanie Schranz, et al.Pageof 13