Margot F. Mulder

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Mariëlle Alders, Benjamin M. Hogan, Evisa Gjini et al. · Nature Genetics · 2009 · 317 citations

Ccbe1 Cause, Genetic Epidemiology, Hematology +5

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Sabine A. Fuchs, Imre F. Schene, Gautam Kok et al. · Genetics in Medicine · 2018 · 113 citations · Full text

Common Themes, Natural Sciences, Genetics +7

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Jeannette C. Bleeker, Irene L. Kok, Sacha Ferdinandusse et al. · Journal of Inherited Metabolic Disease · 2019 · 51 citations · Full text

Genetic Testing, Neonatology, Genetics +21

ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Éva Morava, Vera Tiemes, Christian Thiel et al. · Journal of Inherited Metabolic Disease · 2016 · 46 citations · Full text

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan et al. · Journal of Inherited Metabolic Disease · 2019 · 45 citations · Full text