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Frontiers in Pediatrics
|
February 3, 2025
Case Report: The importance of genetic counseling for families with hyperinsulinism
Victoria R Sanders, Katherine Lord, Winnie M Sigal, et al.
Hormone Research in Paediatrics
|
March 8, 2026
Double trouble: When focal and diffuse hyperinsulinism occur simultaneously
Victoria R Sanders, Katherine Lord, Winnie Sigal, et al.
Cold Spring Harbor Molecular Case Studies
|
December 10, 2021
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in <i>PIK3CA</i>
Sarah E Sheppard, Victoria R Sanders, Abhay Srinivasan, et al.
JCI Insight
|
May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
Sarah E Sheppard, Michael E March, Christoph Seiler, et al.
Human Genetics
|
May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
European Journal of Human Genetics : EJHG
|
January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
American Journal of Human Genetics
|
May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
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Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
Frontiers in Pediatrics
|
February 3, 2025
Case Report: The importance of genetic counseling for families with hyperinsulinism
Victoria R Sanders, Katherine Lord, Winnie M Sigal, et al.
Hormone Research in Paediatrics
|
March 8, 2026
Double trouble: When focal and diffuse hyperinsulinism occur simultaneously
Victoria R Sanders, Katherine Lord, Winnie Sigal, et al.
Cold Spring Harbor Molecular Case Studies
|
December 10, 2021
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in <i>PIK3CA</i>
Sarah E Sheppard, Victoria R Sanders, Abhay Srinivasan, et al.
JCI Insight
|
May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
Sarah E Sheppard, Michael E March, Christoph Seiler, et al.
Human Genetics
|
May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
European Journal of Human Genetics : EJHG
|
January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
American Journal of Human Genetics
|
May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.
Page
of 2