Search research articles
Contact Us
Filters
Showing results (261-270 of 338) with videos related to
Page
of 34
Sort By:
European Journal of Human Genetics : EJHG
|
February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Nadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Journal of the American Heart Association
|
April 2, 2024
Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations
Vanessa F Schmidt, Friedrich G Kapp, Constantin Goldann, et al.
Human Mutation
|
December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Philip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 22, 2016
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Karim Kouz, Christina Lissewski, Stephanie Spranger, et al.
Journal of Medical Genetics
|
June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Martin Zenker, Denise Horn, Dagmar Wieczorek, et al.
Journal of Medical Genetics
|
April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.
Journal of the American Society of Nephrology : JASN
|
October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Human Molecular Genetics
|
March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Marialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
Genome Medicine
|
March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Page
of 34
Search research articles
Search
Showing results (261-270 of 338) with videos related to
Sort By:
Page
of 34
European Journal of Human Genetics : EJHG
|
February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Nadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG
|
August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, et al.
Journal of the American Heart Association
|
April 2, 2024
Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations
Vanessa F Schmidt, Friedrich G Kapp, Constantin Goldann, et al.
Human Mutation
|
December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Philip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 22, 2016
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Karim Kouz, Christina Lissewski, Stephanie Spranger, et al.
Journal of Medical Genetics
|
June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Martin Zenker, Denise Horn, Dagmar Wieczorek, et al.
Journal of Medical Genetics
|
April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.
Journal of the American Society of Nephrology : JASN
|
October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Carolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Human Molecular Genetics
|
March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Marialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
Genome Medicine
|
March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
Page
of 34