H.J.M. Smeets

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama et al. · Nature Genetics · 1994 · 510 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

Karin Buiting, Bärbel Dittrich, Stephanie Groß et al. · The American Journal of Human Genetics · 1998 · 215 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +8

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

Henny H. Lemmink, W Nillesen, Toshio Mochizuki et al. · Journal of Clinical Investigation · 1996 · 202 citations · Full text

Persistent Microscopic Hematuria, Genetics, Renal Pathology +16

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Claudia Braida, Rhoda Stefanatos, Berit Adam et al. · Human Molecular Genetics · 2010 · 156 citations · Full text

A 4–base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

I.F.M. de Coo, W.O. Renier, W. Ruitenbeek et al. · Annals of Neurology · 1999 · 129 citations

Mitochondrial Respiratory Chain, Neurodegenerative Diseases, Mendelian Disorder +14