B. Le Marec

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Sylvie Odent, Tania Attié‐Bitach, Martine Blayau et al. · Human Molecular Genetics · 1999 · 159 citations

Life Sciences, Genetics, Molecular Genetics +16

Heredity of idiopathic haemochromatosis: A study of 106 families

M. K. Simon, J. Alexandre, M Bourel et al. · Clinical Genetics · 1977 · 92 citations

Life Sciences, Genetics, Hematology +11

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

A. Smahl, Christel Hydén‐Granskog, Borut Peterlin et al. · Human Molecular Genetics · 1994 · 72 citations

Life Sciences, Genetics, Molecular Genetics +7

Atelosteogenesis

P Maroteaux, Jürgen W. Spranger, V. Stanescu et al. · American Journal of Medical Genetics · 1982 · 63 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

Laurent Pasquier, Christèle Dubourg, Martine Blayau et al. · European Journal of Human Genetics · 2000 · 60 citations

Life Sciences, Genetics, Molecular Genetics +6