Albert de la Chapelle

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Kristiina Aittomäki, JoséLuis Dieguez Lucena, Pirjo Pakarinen et al. · Cell · 1995 · 980 citations · Full text

Medicine, Endocrinology, Genetics +14

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Maria Aminoff, Jo Ellen Carter, Robert B. Chadwick et al. · Nature Genetics · 1999 · 267 citations

Life Sciences, Genetics, Molecular Genetics +11

Localization of the <i>EPM1</i> gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

Anna-Ellna Lehesjokl, Marjaleena Koskiniemi, Reljo Norio et al. · Human Molecular Genetics · 1993 · 146 citations

Life Sciences, Genetics, Molecular Genetics +17

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping

Juha Kere, Tapani Ruutu, KA Davies et al. · Blood · 1989 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Defective neutrophil migration in monosomy-7

Petri Ruutu, Tapani Ruutu, Heikki Repo et al. · Blood · 1981 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11