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Showing results (51-60 of 92) with videos related to

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European Journal of Endocrinology|March 9, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationshipsFrédéric Brioude, Jérôme Bouligand, Séverine Trabado, et al.
Neuroendocrinology|March 2, 2012
Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: physiological, pathophysiological and therapeutic implicationsJacques Young, Jyothis T George, Javier A Tello, et al.
Plos One|January 26, 2013
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutationFrédéric Brioude, Jérôme Bouligand, Bruno Francou, et al.
The Journal of Clinical Endocrinology and Metabolism|March 3, 2010
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humansJacques Young, Jérôme Bouligand, Bruno Francou, et al.
Neuromuscular Disorders : NMD|July 10, 2021
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT diseaseRocio-Nur Villar-Quiles, Van Thuy Le, Sarah Leonard-Louis, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Andrologia|October 27, 2020
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndromeMirella Hage, Delphine Drui, Bruno Francou, et al.
European Journal of Neurology|July 14, 2025
Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR CarriersNina Schulz, Diane Beauvais, Cécile Cauquil, et al.
The British Journal of Ophthalmology|January 18, 2020
Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosisRoxane Bunod, David Adams, Cécile Cauquil, et al.
Plos One|October 28, 2011
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutationsBruno Francou, Jérôme Bouligand, Adela Voican, et al.
Pageof 10

Showing results (51-60 of 92) with videos related to

Sort By:
Pageof 10
European Journal of Endocrinology|March 9, 2010
Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationshipsFrédéric Brioude, Jérôme Bouligand, Séverine Trabado, et al.
Neuroendocrinology|March 2, 2012
Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: physiological, pathophysiological and therapeutic implicationsJacques Young, Jyothis T George, Javier A Tello, et al.
Plos One|January 26, 2013
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutationFrédéric Brioude, Jérôme Bouligand, Bruno Francou, et al.
The Journal of Clinical Endocrinology and Metabolism|March 3, 2010
TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humansJacques Young, Jérôme Bouligand, Bruno Francou, et al.
Neuromuscular Disorders : NMD|July 10, 2021
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT diseaseRocio-Nur Villar-Quiles, Van Thuy Le, Sarah Leonard-Louis, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Andrologia|October 27, 2020
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndromeMirella Hage, Delphine Drui, Bruno Francou, et al.
European Journal of Neurology|July 14, 2025
Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR CarriersNina Schulz, Diane Beauvais, Cécile Cauquil, et al.
The British Journal of Ophthalmology|January 18, 2020
Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosisRoxane Bunod, David Adams, Cécile Cauquil, et al.
Plos One|October 28, 2011
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutationsBruno Francou, Jérôme Bouligand, Adela Voican, et al.
Pageof 10