Jean Claude Lambert

<i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

Irina Giurgea, Chantal Missirian, Pierre Cacciagli et al. · Human Mutation · 2008 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

S. Hiéronimus, M. Bec-Roche, Florence Pédeutour et al. · European Journal of Endocrinology · 2006 · 44 citations

Medicine, Endocrinology, Genetics +14

Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

Merete Bugge, Elisabeth Blennow, Ursula Friedrich et al. · European Journal of Human Genetics · 1996 · 40 citations

Life Sciences, Genetics, Molecular Genetics +10

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

Konstantina Fragaki, Vincent Procaccio, Sylvie Bannwarth et al. · Mitochondrion · 2009 · 19 citations

Life Sciences, Genetics, Molecular Genetics +15

Winchester syndrome: the progression of radiological findings over a 23-year period

Radovan Vaňatka, Cécile Rouzier, Jean Claude Lambert et al. · Skeletal Radiology · 2010 · 16 citations

Medicine, Radiology, Diagnostic Radiology +1