Publications by authors named "C Pienkowski"

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A recurrent splice variant sheds light on 11beta-hydroxylase deficiency in a unique large cohort.
Clément Janot, Delphine Mallet, Alexandre Janin, Jérome Bertherat, Raja Brauner, Catherine Pienkowski

J Clin Endocrinol Metab· August 2025

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Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Camille Gosseaume, Thierry Fournier, Isabelle Jéru, Marie-Léone Vignaud, Isabelle Missotte, Catherine Pienkowski

Eur J Endocrinol· March 2023

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Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.
Gaëlle Nannette, Céline Bar, Gwenaëlle Diene, Catherine Pienkowski, Isabelle Oliver-Petit

J Clin Endocrinol Metab· January 2023

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Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Jean-Yves Picard, Gilles Morin, Mojgan Devouassoux-Shisheboran, Jasper Van der Smagt, Serge Klosowski, Catherine Pienkowski

Hum Reprod· November 2022

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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Catherine Pienkowski

Orphanet J Rare Dis· July 2022

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