French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH)
Cyril Amouroux, Valérie Porquet‐Bordes, Elodie Adler, Yoan Le Goff et autres
0 citationsOrphanet Journal of Rare Diseases
Valérie Porquet‐Bordes
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
24Publications signalées
354Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Connective tissue disorders researchBone fractures and treatmentsBone health and treatmentsAlkaline Phosphatase Research StudiesVitamin D Research Studies
Publications récentes
Determination of child, young person and adult research priorities in Osteogenesis Imperfecta using a multinational focus group approach
C L Hill, Eric HK Yeung, Elena Meshcheryakova, Alexandra Romanycheva et autres
0 citationsResearch Square
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres
52 citationsThe Lancet Regional Health - Europe
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
Maxence Mancini, Roland Chapurlat, Bertrand Isidor, Marine Desjonquères et autres
4 citationsCalcified Tissue International
Orofacial Features, Oral Health-Related Quality of Life, and Exposure to Bullying in Osteogenesis Imperfecta: A Cross-Sectional Study
Alice Broutin, Jean‐Pierre Salles, Valérie Porquet‐Bordes, Thomas Édouard et autres
0 citationsChildren
Clinical heterogeneity of NADSYN1 ‐associated VCRL syndrome
Marion Aubert‐Mucca, Caroline Janel, Valérie Porquet‐Bordes, Olivier Patat et autres
8 citationsClinical Genetics
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults
Gaëlle Nannette, Céline Bar, Gwénaëlle Diene, Catherine Pienkowski et autres
4 citationsThe Journal of Clinical Endocrinology & Metabolism
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study
Louisa Bloudeau, Agnès Linglart, Sacha Flammier, Aurélie Portefaix et autres
12 citationsPediatric Nephrology
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre
Coline Rouleau, Margaux Malorie, Corinne Collet, Valérie Porquet‐Bordes et autres
13 citationsBone Reports
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Eugénie Koumakis, Valérie Cormier‐Daire, Azeddine Dellal, Marc Debernardi et autres
25 citationsOrphanet Journal of Rare Diseases
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature
Marion Aubert‐Mucca, Charlotte Dubucs, Marion Groussolles, Julie Vial et autres
6 citationsBone Reports
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
Wouter H. Nijhuis, Anton Franken, Kara Ayers, Chantal Damas et autres
48 citationsOrphanet Journal of Rare Diseases
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.