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American Journal of Medical Genetics. Part A
|
March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
Dena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2016
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Colleen F Macmurdo, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, et al.
Journal of Genetic Counseling
|
April 30, 2026
A qualitative interview study of medical genetics and genomics residents' perspectives on race, ethnicity, and racism in clinical settings and their related gaps in knowledge: "It's just taboo. Nobody talks about it."
Justin L Gomez-Stafford, Jemal Vaunado, MaryAnn W Campion, et al.
The Journal of Physiology
|
October 26, 2023
Two epilepsy-associated variants in KCNA2 (K<sub>V</sub> 1.2) at position H310 oppositely affect channel functional expression
Teresa Mínguez-Viñas, Varsha Prakash, Kaiqian Wang, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2003
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals
David A Stevenson, Theresa M Anaya, Jill Clayton-Smith, et al.
Molecular Genetics and Metabolism
|
November 20, 2013
Decreased bone mineral density in Costello syndrome
Chiara Leoni, David A Stevenson, Lucilla Martini, et al.
Journal of Medical Genetics
|
January 24, 2015
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1
David W Sant, Rebecca L Margraf, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2013
Fractures in children with neurofibromatosis type 1 from two NF clinics
Jaya K George-Abraham, Lisa J Martin, Heidi J Kalkwarf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2021
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
D Gareth Evans, Ludwine M Messiaen, William D Foulkes, et al.
Human Molecular Genetics
|
December 12, 2017
Dietary intervention rescues myopathy associated with neurofibromatosis type 1
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, et al.
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Search research articles
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Showing results (101-110 of 166) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part A
|
March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
Dena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2016
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Colleen F Macmurdo, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, et al.
Journal of Genetic Counseling
|
April 30, 2026
A qualitative interview study of medical genetics and genomics residents' perspectives on race, ethnicity, and racism in clinical settings and their related gaps in knowledge: "It's just taboo. Nobody talks about it."
Justin L Gomez-Stafford, Jemal Vaunado, MaryAnn W Campion, et al.
The Journal of Physiology
|
October 26, 2023
Two epilepsy-associated variants in KCNA2 (K<sub>V</sub> 1.2) at position H310 oppositely affect channel functional expression
Teresa Mínguez-Viñas, Varsha Prakash, Kaiqian Wang, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2003
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals
David A Stevenson, Theresa M Anaya, Jill Clayton-Smith, et al.
Molecular Genetics and Metabolism
|
November 20, 2013
Decreased bone mineral density in Costello syndrome
Chiara Leoni, David A Stevenson, Lucilla Martini, et al.
Journal of Medical Genetics
|
January 24, 2015
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1
David W Sant, Rebecca L Margraf, David A Stevenson, et al.
American Journal of Medical Genetics. Part A
|
March 27, 2013
Fractures in children with neurofibromatosis type 1 from two NF clinics
Jaya K George-Abraham, Lisa J Martin, Heidi J Kalkwarf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2021
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma
D Gareth Evans, Ludwine M Messiaen, William D Foulkes, et al.
Human Molecular Genetics
|
December 12, 2017
Dietary intervention rescues myopathy associated with neurofibromatosis type 1
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, et al.
Page
of 17