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Ebiomedicine|September 13, 2022
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineAbdelkader Heddar, Cagri Ogur, Sabrina Da Costa, et al.
Orphanet Journal of Rare Diseases|July 12, 2022
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)Elodie Fiot, Bertille Alauze, Bruno Donadille, et al.
Annales D'Endocrinologie|May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.
The Journal of Clinical Endocrinology and Metabolism|October 22, 2021
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort StudyFerdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, et al.
Annales D'Endocrinologie|March 21, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.
Geriatrie Et Psychologie Neuropsychiatrie Du Vieillissement|November 8, 2016
French law: what about a reasoned reimbursement of serum vitamin D assays?Jean-Claude Souberbielle, Claude Laurent Benhamou, Bernard Cortet, et al.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.
Nature Communications|March 13, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integrationStefan Groeneweg, Ferdy S van Geest, Mariano Martín, et al.
Nature Medicine|October 4, 2023
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicineDeirdre K Tobias, Jordi Merino, Abrar Ahmad, et al.
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