Marc de Kerdanet

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Lionel Van Maldergem, J. Magre, T. E. Khallouf et al. · Journal of Medical Genetics · 2002 · 249 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maı̈moun, Pascal Philibert, B. Cammas et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 213 citations

Medicine, Endocrinology, Genetics +17

Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy

Michel Polak, Aurélie Dechaume, Hélène Cavé et al. · Diabetes · 2008 · 134 citations · Full text

Medicine, Endocrinology, Genetics +17

Markers of Recurrence and Long-Term Morbidity in Craniopharyngioma: A Systematic Analysis of 171 Patients

Alain Gautier, Ariane Godbout, C. Grosheny et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 120 citations · Full text

Medicine, Oncology, Radiation Oncology +10

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Yves Morel, Claire-Lise Gay, Catherine Pienkowski et al. · European Journal of Endocrinology · 2012 · 116 citations

Medicine, Endocrinology, Genetics +17