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. · SPIRE - Sciences Po Institutional REpository · 1996 · 468 citations

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

Somatic Variant, Genetic Disorder, Medicine +12

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

Genetic Testing, Genetics, Dna Analysis +23

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

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 · 111 citations