C E de Die-Smulders

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures

Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha et al. · New England Journal of Medicine · 2013 · 200 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Christel Depienne, Marianna Bugiani, Céline Dupuits et al. · The Lancet Neurology · 2013 · 184 citations · Full text

Medicine, Neurology, Neuroscience +13

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

P R Rosias, J M Sijstermans, P.M.V.M. Theunissen et al. · PubMed · 2001 · 105 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog, Tatjana Bierhals, K. Gerhard Brand et al. · Orphanet Journal of Rare Diseases · 2015 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17