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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2019
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Whitney L Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options
Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2011
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1
David A Stevenson, Jincheng Yan, Yongzheng He, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Cancer Research
|
November 9, 2014
The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients
Nicole M Warrington, Tao Sun, Jingqin Luo, et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research
|
March 1, 2025
The American Federation for Medical Research maintains commitment to decades of support of vaccine and vaccination research to improve public health
Zanthia Wiley, Sidharth Mahapatra, Gaurav Agarwal, et al.
European Journal of Human Genetics : EJHG
|
December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 3, 2026
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period Study
Jennifer L Miller, Nicola Bridges, Eric I Felner, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
The Journal of Investigative Dermatology
|
October 26, 2012
Copy number variation analysis in 98 individuals with PHACE syndrome
Dawn H Siegel, Joseph T C Shieh, Eun-Kyung Kwon, et al.
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of 17
Search research articles
Search
Showing results (141-150 of 167) with videos related to
Sort By:
Page
of 17
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2019
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
Whitney L Wooderchak-Donahue, Gulsen Akay, Kevin Whitehead, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options
Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2011
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1
David A Stevenson, Jincheng Yan, Yongzheng He, et al.
American Journal of Medical Genetics. Part A
|
March 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Akash Kumar, Diane B Zastrow, Elijah J Kravets, et al.
Cancer Research
|
November 9, 2014
The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients
Nicole M Warrington, Tao Sun, Jingqin Luo, et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research
|
March 1, 2025
The American Federation for Medical Research maintains commitment to decades of support of vaccine and vaccination research to improve public health
Zanthia Wiley, Sidharth Mahapatra, Gaurav Agarwal, et al.
European Journal of Human Genetics : EJHG
|
December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 3, 2026
Diazoxide Choline Extended-Release Tablets in Prader-Willi Syndrome: A Randomized, Double-Blind, Withdrawal Period Study
Jennifer L Miller, Nicola Bridges, Eric I Felner, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
The Journal of Investigative Dermatology
|
October 26, 2012
Copy number variation analysis in 98 individuals with PHACE syndrome
Dawn H Siegel, Joseph T C Shieh, Eun-Kyung Kwon, et al.
Page
of 17