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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 11, 2011
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation
Federico Formenti, Philip A Beer, Quentin P P Croft, et al.
Nature Communications
|
August 17, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Peter H Dixon, Adam P Levine, Inês Cebola, et al.
Blood
|
September 25, 2016
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
David Kavanagh, Sarah McGlasson, Alexa Jury, et al.
Plos One
|
March 24, 2017
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population
Konstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, et al.
Elife
|
September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves
Melanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
March 4, 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
Amy J Osborne, Matteo Breno, Nicolo Ghiringhelli Borsa, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
September 23, 2021
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes
Edwin K S Wong, Kevin J Marchbank, Hannah Lomax-Browne, et al.
European Journal of Human Genetics : EJHG
|
March 9, 2022
The 2019 and 2021 International Workshops on Alport Syndrome
Sergio Daga, Jie Ding, Constantinos Deltas, et al.
European Journal of Human Genetics : EJHG
|
January 23, 2023
Correction: The 2019 and 2021 International workshops on Alport syndrome
Sergio Daga, Jie Ding, Constantinos Deltas, et al.
Frontiers in Neurology
|
November 30, 2019
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
Nicholas M P Annear, Richard E Appleton, Zahabiyah Bassi, et al.
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Showing results (81-90 of 115) with videos related to
Sort By:
Page
of 12
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
March 11, 2011
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation
Federico Formenti, Philip A Beer, Quentin P P Croft, et al.
Nature Communications
|
August 17, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Peter H Dixon, Adam P Levine, Inês Cebola, et al.
Blood
|
September 25, 2016
Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature
David Kavanagh, Sarah McGlasson, Alexa Jury, et al.
Plos One
|
March 24, 2017
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population
Konstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, et al.
Elife
|
September 20, 2022
Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves
Melanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
March 4, 2018
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
Amy J Osborne, Matteo Breno, Nicolo Ghiringhelli Borsa, et al.
Clinical Journal of the American Society of Nephrology : CJASN
|
September 23, 2021
C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes
Edwin K S Wong, Kevin J Marchbank, Hannah Lomax-Browne, et al.
European Journal of Human Genetics : EJHG
|
March 9, 2022
The 2019 and 2021 International Workshops on Alport Syndrome
Sergio Daga, Jie Ding, Constantinos Deltas, et al.
European Journal of Human Genetics : EJHG
|
January 23, 2023
Correction: The 2019 and 2021 International workshops on Alport syndrome
Sergio Daga, Jie Ding, Constantinos Deltas, et al.
Frontiers in Neurology
|
November 30, 2019
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
Nicholas M P Annear, Richard E Appleton, Zahabiyah Bassi, et al.
Page
of 12