Concepedia
Statistics
Publications
17
Citations
1.4K
H-Index
15
Active since
1990
Affiliations
Inserm(Current)
Hôpital des Enfants
Hôpital Necker-Enfants Malades
Institut Necker Enfants Malades
Hôpital d'Enfants
A Munnich is an author at Inserm specializing in genetics, life sciences, and molecular genetics.
Publications per year
1990–2012
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
Claude Férec, Odile Raguénès, Rémi Salomon et al. · Journal of Medical Genetics · 1999 · 199 citations
Life Sciences, Genetics, Molecular Genetics +16
Disruption of a long distance regulatory region upstream of <i>SOX9</i> in isolated disorders of sex development
Sabina Benko, Christopher T. Gordon, Delphine Mallet et al. · Journal of Medical Genetics · 2011 · 189 citations
Life Sciences, Genetics, Molecular Genetics +17
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
Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation
Ronald J. A. Wanders, Lodewijk IJlst, F Poggi et al. · Biochemical and Biophysical Research Communications · 1992 · 154 citations
Life Sciences, Biochemistry, Molecular Biology +16
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias
Laurence Legeai‐Mallet, Catherine Benoist-Lasselin, A Munnich et al. · Bone · 2003 · 107 citations
Life Sciences, Genetics, Molecular Biology +10
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