Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
The Journal of Clinical Endocrinology and Metabolism|October 9, 2004
Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiencyDelphine Mallet, Patricia Bretones, Laurence Michel-Calemard, et al.
European Thyroid Journal|May 13, 2021
Congenital Hypothyroidism due to a Low Level of Maternal Thyrotropin Receptor-Blocking AntibodiesSolène Castellnou, Patricia Bretones, Juliette Abeillon, et al.
Molecular and Cellular Endocrinology|June 8, 2006
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)Delphine Zenaty, Patricia Bretones, Cécile Lambe, et al.
Frontiers in Endocrinology|October 2, 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually <i>de novo</i> DisorderFlorence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 22, 2023
Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatricsClément Janot, Pauline Perrin, Patricia Bretones, et al.
European Journal of Endocrinology|October 6, 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiencyRachel Fourneaux, Rachel Reynaud, Gregory Mougel, et al.
European Journal of Endocrinology|September 13, 2014
Predictive value of maternal second-generation thyroid-binding inhibitory immunoglobulin assay for neonatal autoimmune hyperthyroidismJuliette Abeillon-du Payrat, Karim Chikh, Nadine Bossard, et al.
Frontiers in Endocrinology|July 6, 2023
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic <i>NR5A1</i> (SF-1) frameshift variant: p.(Phe70Ser<i>fs</i>*5)Jordan Teoli, Delphine Mallet, Lucie Renault, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 1, 2025
Treatment of Transient Hypothyroxinemia of Prematurity Does Not Improve Neurodevelopment at Two Years of AgeAngélique Bardet, Marine Vincent, Aurélie Portefaix, et al.
Human Reproduction (Oxford, England)|March 21, 2024
Urinary gonadotropin assay on 24-h collections as a tool to detect early central puberty onset in girls: determination of predictive thresholdsClément Janot, Pauline Perrin, Véronique Raverot, et al.
Pageof 2