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The Journal of Clinical Endocrinology and Metabolism|October 19, 2016
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 MutationValérie Bernard, Sakina Kherra, Bruno Francou, et al.European Journal of Endocrinology|December 3, 2020
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patientsArrate Pereda, Francesca M Elli, Suzanne Thiele, et al.Molecular Biology and Evolution|September 8, 2006
Evolution of the terminal regions of the Streptomyces linear chromosomeFrédéric Choulet, Bertrand Aigle, Alexandre Gallois, et al.European Journal of Neurology|September 4, 2024
Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathyCéline Konecki, Bruno Francou, Kenneth Chappell, et al.Journal of Bacteriology|September 6, 2006
Intraspecific variability of the terminal inverted repeats of the linear chromosome of Streptomyces ambofaciensFrédéric Choulet, Alexandre Gallois, Bertrand Aigle, et al.Annales D'Endocrinologie|November 24, 2015
Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failureNouha Bouali, Dorra Hmida, Soumaya Mougou, et al.Human Reproduction (Oxford, England)|November 27, 2018
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndromeLuigi Maione, Anne Fèvre, Immacolata Cristina Nettore, et al.The Journal of Clinical Endocrinology and Metabolism|January 16, 2014
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidismAnne-Sophie Lambert, Virginie Grybek, Bruno Francou, et al.Human Reproduction (Oxford, England)|April 21, 2016
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre studyBruno Francou, Charlotte Paul, Larbi Amazit, et al.Proceedings of the National Academy of Sciences of the United States of America|February 16, 2023
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormonePatrick Hanna, Ashok Khatri, Shawn Choi, et al.Pageof 10