Profiles

Ron Wevers

Professor in Clinical Chemistry in Nijmegen

Verified email at radboudumc.nl

Cited by 22733

metabolomics biomarkers neurometabolism Congenital disorders of glycosylation (CDG) inborn errors of metabolism

Etienne Sokal

Université Catholique de Louvain, Institut de Recherche Expérimentale et Clinique (IREC) …

Verified email at uclouvain.be

Cited by 19608

Pediatric liver diseases Stem cells Regenerative medicine Inborn errors of metabolism

William Wilcox

Professor of Human Genetics, Emory University

Verified email at emory.edu

Cited by 16720

Medical Genetics Inborn Errors of Metabolism Genetic Skeletal Disorders Dwarfisms

John Christodoulou

Murdoch Children's Research Institute

Verified email at mcri.edu.au

Cited by 12265

genomics inborn errors of metabolism functional genomics

Soumeya BEKRI

Professor of Medical Biochemistry and Molecular Biology - Rouen University

Verified email at chu-rouen.fr

Cited by 11217

Precision Medicine Inborn Errors of Metabolism Human Genetics Omics

Shamima Rahman

Professor of Paediatric Metabolic Medicine, UCL

Verified email at ucl.ac.uk

Cited by 8924

mitochondrial diseases inborn errors of metabolism paediatrics genetics

Matthias R. Baumgartner

University Children's Hospital Zürich

Verified email at kispi.uzh.ch

Cited by 6391

inborn errors of metabolism vitamin B12 methylmalonic acid homocysteine

Carmen Argmann

Assistant Professor, ICAHN School of Medicine at Mount Sinai

Cited by 6358

Genetics Diabetes Inborn errors of metabolism transcriptome IBD

vernon sutton

Professor of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's …

Verified email at texaschildrens.org

Cited by 6211

osteogenesis imperfecta inborn errors of metabolism Robinow syndrome White-Sutton syndrome

Brage S. Andresen

Professor Molekylær Biologi, Syddansk Universitet

Verified email at bmb.sdu.dk

Cited by 6127

Molecular Genetics Aberrant splicing Inborn errors of metabolism Neuromuscular Disorders

1 - 10