Arjan Pm de Brouwer

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 303 citations · Full text

Is Mutated, Genetics, Glycobiology +3

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Simon T. Cliffe, Jamie M. Kramer, Khalid Hussain et al. · Human Molecular Genetics · 2009 · 117 citations

Metabolic Syndrome, Insulin Signaling, Genetic Disorder +15

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje W.M. van Bon, David A. Koolen, Louise Brueton et al. · European Journal of Human Genetics · 2009 · 77 citations · Full text

Down Syndrome, Genetic Disorder, Genetics +4

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 72 citations · Full text

Periventricular Heterotopia in Common Microdeletion Syndromes

Margriet van Kogelenberg, Sondhya Ghedia, George McGillivray et al. · Molecular Syndromology · 2010 · 64 citations · Full text