Monique Losekoot

Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · HAL (Le Centre pour la Communication Scientifique Directe) · 1996 · 468 citations

Life Sciences, Genetics, Molecular Genetics +10

Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations

Juul Wijnen, P. Meera Khan, Hans F. A. Vasen et al. · The American Journal of Human Genetics · 1997 · 226 citations · Full text

Life Sciences, Genetics, Oncology +17

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia

Monique Losekoot, Riccardo Fodde, C. L. Harteveld et al. · British Journal of Haematology · 1990 · 139 citations

Life Sciences, Genetics, Molecular Genetics +16

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

Otto P. van Diggelen, Stéphane Thobois, Caroline Tilikete et al. · Annals of Neurology · 2001 · 117 citations

Life Sciences, Neurology, Neuroscience +17

Two Short Children Born Small for Gestational Age with Insulin-Like Growth Factor 1 Receptor Haploinsufficiency Illustrate the Heterogeneity of Its Phenotype

Wietske A. Ester, Hermine A. van Duyvenvoorde, C.C. de Wit et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 112 citations

Medicine, Genetics, Molecular Genetics +17