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The Journal of Clinical Endocrinology and Metabolism
|
February 16, 2020
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, et al.
JCI Insight
|
May 22, 2024
A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes
Kristiina Pulli, Jonna Saarimäki-Vire, Pekka Ahonen, et al.
Nature Reviews. Endocrinology
|
July 22, 2015
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment
Ulrich Boehm, Pierre-Marc Bouloux, Mehul T Dattani, et al.
Endocrine Reviews
|
February 16, 2017
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
Taneli Raivio, Yisrael Sidis, Lacey Plummer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 13, 2009
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
Taneli Raivio, Yisrael Sidis, Lacey Plummer, et al.
EMBO Reports
|
December 22, 2017
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, et al.
American Journal of Human Genetics
|
December 30, 2019
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Andrea Messina, Kristiina Pulli, Sara Santini, 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 spectrum
Lindsay 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 hypogonadism
Nelly Pitteloud, Richard Quinton, Simon Pearce, et al.
The Journal of Clinical Investigation
|
July 4, 2008
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
John Falardeau, Wilson C J Chung, Andrew Beenken, et al.
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of 14
Search research articles
Search
Showing results (121-130 of 135) with videos related to
Sort By:
Page
of 14
The Journal of Clinical Endocrinology and Metabolism
|
February 16, 2020
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, et al.
JCI Insight
|
May 22, 2024
A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes
Kristiina Pulli, Jonna Saarimäki-Vire, Pekka Ahonen, et al.
Nature Reviews. Endocrinology
|
July 22, 2015
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment
Ulrich Boehm, Pierre-Marc Bouloux, Mehul T Dattani, et al.
Endocrine Reviews
|
February 16, 2017
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
Taneli Raivio, Yisrael Sidis, Lacey Plummer, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 13, 2009
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
Taneli Raivio, Yisrael Sidis, Lacey Plummer, et al.
EMBO Reports
|
December 22, 2017
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome
Yeon-Joo Kim, Daniel Ps Osborn, Ji-Young Lee, et al.
American Journal of Human Genetics
|
December 30, 2019
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Andrea Messina, Kristiina Pulli, Sara Santini, 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 spectrum
Lindsay 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 hypogonadism
Nelly Pitteloud, Richard Quinton, Simon Pearce, et al.
The Journal of Clinical Investigation
|
July 4, 2008
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
John Falardeau, Wilson C J Chung, Andrew Beenken, et al.
Page
of 14