Sylvie Soskin
Strasbourg, France
Last Updated: 09/26/2026
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Found 10 publications
Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development.
Journal: Endocrine connections
Published: July 03, 2023
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Journal: Endocrine connections
Published: October 18, 2022
Young XLH Patients-Reported Experience with a Supportive Care Program.
Journal: Patient preference and adherence
Published: September 23, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 22, 2022
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
Journal: European journal of endocrinology
Published: September 30, 2020
Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: April 18, 2020
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Journal: Journal of medical genetics
Published: June 06, 2015
McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back
Journal: Annales de dermatologie et de venereologie
Published: February 22, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Journal: Human molecular genetics
Published: November 15, 2014
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 16, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026