Saskia M. Maas

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

Julie Soblet, J. Kangas, Marjut Nätynki et al. · Journal of Investigative Dermatology · 2016 · 233 citations

Developmental Anomaly, Syndrome Is, Somatic Tek +5

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Marie-José van den Bogaard, Saskia M. Maas et al. · The American Journal of Human Genetics · 2006 · 210 citations · Full text

H19 Gene Causes, Genetic Disorder, Genetics +8

Long-Term Omeprazole Treatment in Man: Effects on Gastric Endocrine Cell Populations

R. Lamberts, W. Creutzfeldt, F. Stöckmann et al. · Digestion · 1988 · 150 citations

Chronic Gastric, Gastrointestinal Pharmacology, Medicine +12