Refining the upstream SOX9 regulatory landscape through whole-genome sequencing in 46,XY complete gonadal dysgenesis
Hannes Syryn, de Velde Julie Van, Heetvelde Matthias Van, Charlotte Matton et autres
0 citationsEndocrine Abstracts
Cécile Brachet
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77Publications signalées
1377Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Growth Hormone and Insulin-like Growth FactorsSexual Differentiation and DisordersHypothalamic control of reproductive hormonesThyroid Disorders and TreatmentsHemoglobinopathies and Related Disorders
Publications récentes
Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study
Simone Van de Velde, Emese Boros, Chloé Brunelle, Dominique Beckers et autres
0 citationsEuropean Journal of Pediatrics
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes
Özlem Okutman, Asma Sassi, AHMET SALVARCI, Sophie Lambert et autres
0 citationsJournal of Assisted Reproduction and Genetics
Prevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry
Laure Boutsen, Muriel Thomas, Jean De Schepper, Franciska Verlinde et autres
0 citationsHormone Research in Paediatrics
ENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe
Hedi L. Claahsen‐van der Grinten, Claus Højbjerg Gravholt, Emily K. White, Manuela Brösamle et autres
3 citationsEuropean Journal of Endocrinology
Could increased thiamazole sales among children in Belgium during the pandemic indicate a surge in Graves’ disease cases?
Fiorenza Ulgiati, Alfredo Vicinanza, Claudine Heinrichs, Diouri Noha et autres
0 citationsJournal of Endocrinological Investigation
Trend in body mass index during childhood in 460 girls with idiopathic central precocious puberty
Alfredo Vicinanza, O Oli Atomssa, Andrea Nebbioso, Fiorenza Ulgiati et autres
1 citationEndocrine Connections
222PPediatric neurological phenotype in triple a syndrome
Pauline Dontaine, Fiorenza Ulgiati, A. Christiaens, Cécile Brachet et autres
0 citationsNeuromuscular Disorders
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
Sebastian Neuens, Julie Soblet, Aurelie Penninckx, Claire Detry et autres
10 citationsEuropean Journal of Medical Genetics
Delayed Thyrotropin Rise in Preterm Newborns: Value of Multiple Screening Samples and of a Detailed Clinical Characterization
Emese Boros, Lionel Marcélis, Claudine Heinrichs, Vinciane Vlieghe et autres
1 citationThyroid
Prevalence and growth pattern of poor long-term responders to gh therapy in prepubertal short children born small for gestational age: real life data from them belgian-luxembourgish registry BELGROW
Becker Marianne, Beckers Dominique, Elise Nauwynck, Brinker Marieke den et autres
0 citationsEndocrine Abstracts
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant
Cécile Brachet, Alexander Laemmle, Martine Cools, Kay‐Sara Sauter et autres
4 citationsEuropean Journal of Endocrinology
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