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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.Human Molecular Genetics|September 12, 2015
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrheaAndreas R Janecke, Peter Heinz-Erian, Jianyi Yin, et al.Neuroscience Letters|May 4, 2002
A new pneumatic vibrator for functional magnetic resonance imaging of the human sensorimotor cortexStefan M Golaszewski, Fritz Zschiegner, Christian M Siedentopf, et al.Hypertension (Dallas, Tex. : 1979)|July 3, 2013
Carotid artery intima-media thickness and distensibility in children and adolescents: reference values and role of body dimensionsAnke Doyon, Daniela Kracht, Aysun K Bayazit, et al.Pediatric Nephrology (Berlin, Germany)|October 24, 2017
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic ricketsNadine Meyerhoff, Dieter Haffner, Hagen Staude, et al.International Journal of Molecular Sciences|September 23, 2022
Effects of Chronic Kidney Disease on Nanomechanics of the Endothelial Glycocalyx Are Mediated by the Mineralocorticoid ReceptorBenedikt Fels, Arne Beyer, Violeta Cazaña-Pérez, 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.Pageof 25