Concepedia

Sophie Romero

SR

Statistics

Publications

3

Citations

157

H-Index

3

Active since

2013

Affiliations

Inserm(Current)

Délégation Paris 7

Université Paris Cité

Université Libre de Bruxelles

Hôpital Femme Mère Enfant

Sophie Romero is an author at Inserm specializing in molecular genetics, life sciences, and missense mutations.

Publications per year

2013–2017

3

Publications

3

A Missense Mutation in <i>PPP1R15B</i> Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo‐Esteve et al. · Diabetes · 2015 · 100 citations · Full text

, , +16

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis

José de Jesús, Z. Imane, Valérie Senée et al. · Diabetes & Metabolism · 2013 · 30 citations

, , +17

dUTPase (<i>DUT</i>) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure

Reinaldo S. Dos Santos, Mathilde Daures, Anne Philippi et al. · Diabetes · 2017 · 27 citations

, , +17

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