Concepedia

Sylvie Nivot

SN

Statistics

Publications

8

Citations

689

H-Index

8

Active since

1994

Affiliations

Sorbonne Université(Current)

Inserm

Centre Hospitalier Universitaire de Rennes

Hôpital Necker-Enfants Malades

Université Rennes 2

Sylvie Nivot is an author at Sorbonne Université specializing in genetics, human genetics, and medical genetics.

Publications per year

1994–2016

8

Publications

8

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

Anna L. Gloyn, C. Diatloff‐Zito, Emma L. Edghill et al. · European Journal of Human Genetics · 2006 · 160 citations

, , +16

True hermaphroditism: Genetic variants and clinical management

Charalambos Hadjiathanasiou, Raja Brauner, Stephen Lortat‐Jacob et al. · The Journal of Pediatrics · 1994 · 149 citations

, , +16

Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor

Jacques Pantel, Marie Legendre, Sylvie Nivot et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 94 citations

, , +17

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

Florence Roucher‐Boulez, Delphine Mallet-Motak, Dinane Samara‐Boustani et al. · European Journal of Endocrinology · 2016 · 94 citations

, , +17

True hermaphroditism: Genetic variants and clinical management☆☆☆★★★

Charalambos Hadjiathanasiou, Raja Brauner, Stephen Lortat‐Jacob et al. · The Journal of Pediatrics · 1994 · 92 citations

, , +16

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