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Richard Quinton

Showing results (161-170 of 189) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|September 2, 2020
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic AmenorrheaAngela Delaney, Adam B Burkholder, Christopher A Lavender, et al.
The Journal of Clinical Endocrinology and Metabolism|July 25, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone DeficiencyJin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, et al.
The Journal of Clinical Endocrinology and Metabolism|June 19, 2008
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrumLindsay W Cole, Yisrael Sidis, ChengKang Zhang, et al.
The Journal of Clinical Investigation|January 20, 2007
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismNelly Pitteloud, Richard Quinton, Simon Pearce, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variantsCheng Xu, Daniele Cassatella, Almer M van der Sloot, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 5, 2014
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiencyRavikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
DLG2 variants in patients with pubertal disordersYoun Hee Jee, Sehoon Won, Julian C Lui, et al.
Human Molecular Genetics|December 5, 2017
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron developmentJustine Bouilly, Andrea Messina, Georgios Papadakis, et al.
The Journal of Clinical Investigation|July 4, 2008
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and miceJohn Falardeau, Wilson C J Chung, Andrew Beenken, et al.
EMBO Molecular Medicine|May 4, 2016
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed pubertySasha R Howard, Leonardo Guasti, Gerard Ruiz-Babot, et al.
Pageof 19

Showing results (161-170 of 189) with videos related to

Sort By:
Pageof 19
The Journal of Clinical Endocrinology and Metabolism|September 2, 2020
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic AmenorrheaAngela Delaney, Adam B Burkholder, Christopher A Lavender, et al.
The Journal of Clinical Endocrinology and Metabolism|July 25, 2015
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone DeficiencyJin-Ho Choi, Ravikumar Balasubramanian, Phil H Lee, et al.
The Journal of Clinical Endocrinology and Metabolism|June 19, 2008
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrumLindsay W Cole, Yisrael Sidis, ChengKang Zhang, et al.
The Journal of Clinical Investigation|January 20, 2007
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismNelly Pitteloud, Richard Quinton, Simon Pearce, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variantsCheng Xu, Daniele Cassatella, Almer M van der Sloot, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 5, 2014
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiencyRavikumar Balasubramanian, Jin-Ho Choi, Ludmila Francescatto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
DLG2 variants in patients with pubertal disordersYoun Hee Jee, Sehoon Won, Julian C Lui, et al.
Human Molecular Genetics|December 5, 2017
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron developmentJustine Bouilly, Andrea Messina, Georgios Papadakis, et al.
The Journal of Clinical Investigation|July 4, 2008
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and miceJohn Falardeau, Wilson C J Chung, Andrew Beenken, et al.
EMBO Molecular Medicine|May 4, 2016
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed pubertySasha R Howard, Leonardo Guasti, Gerard Ruiz-Babot, et al.
Pageof 19