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European Journal of Endocrinology
|
October 17, 2025
EndoCompass project: research roadmap for growth disorders
Evelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Hormone Research in Paediatrics
|
December 1, 2025
EndoCompass Project: Research Roadmap for Growth Disorders
Evelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Cardiovascular and Interventional Radiology
|
October 19, 2022
Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol
Vanessa F Schmidt, Max Masthoff, Veronika Vielsmeier, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
Human Mutation
|
July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Julia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
American Journal of Human Genetics
|
May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
Laura Southgate, Rajiv D Machado, Katie M Snape, et al.
JCI Insight
|
September 29, 2020
KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
Jasmine C Wong, Pedro A Perez-Mancera, Tannie Q Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Nadine N Hauer, Bernt Popp, Eva Schoeller, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Reza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Page
of 34
Search research articles
Search
Showing results (251-260 of 338) with videos related to
Sort By:
Page
of 34
European Journal of Endocrinology
|
October 17, 2025
EndoCompass project: research roadmap for growth disorders
Evelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Hormone Research in Paediatrics
|
December 1, 2025
EndoCompass Project: Research Roadmap for Growth Disorders
Evelien F Gevers, Anita C Hokken-Koelega, Maithe Tauber, et al.
Cardiovascular and Interventional Radiology
|
October 19, 2022
Clinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol
Vanessa F Schmidt, Max Masthoff, Veronika Vielsmeier, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.
Human Mutation
|
July 1, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease
Julia Vodopiutz, Rainer Seidl, Daniela Prayer, et al.
American Journal of Human Genetics
|
May 14, 2011
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
Laura Southgate, Rajiv D Machado, Katie M Snape, et al.
JCI Insight
|
September 29, 2020
KrasP34R and KrasT58I mutations induce distinct RASopathy phenotypes in mice
Jasmine C Wong, Pedro A Perez-Mancera, Tannie Q Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 15, 2018
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Nadine N Hauer, Bernt Popp, Eva Schoeller, et al.
European Journal of Human Genetics : EJHG
|
October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
Julia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
European Journal of Human Genetics : EJHG
|
January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
Reza Asadollahi, Justin E Strauss, Martin Zenker, et al.
Page
of 34