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Human Molecular Genetics
|
May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria
N Gregersen, V S Winter, M J Corydon, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
January 18, 2022
Catchment Profile of Large Cochlear Implant Centers in the United States
Ashley M Nassiri, Meredith A Holcomb, Elizabeth L Perkins, et al.
Nature Communications
|
January 29, 2025
Precession modulates the poleward expansion of atmospheric circulation to the Arctic Ocean
Yi Zhong, Zhengyao Lu, Stefanie Kaboth-Bahr, 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.
American Journal of Medical Genetics. Part A
|
October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Katherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
Human Mutation
|
August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
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of 23
Search research articles
Search
Showing results (221-230 of 227) with videos related to
Sort By:
Page
of 23
You have reached the last page of results.
This site can display upto 227 results.
Human Molecular Genetics
|
May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria
N Gregersen, V S Winter, M J Corydon, et al.
Plos Genetics
|
May 20, 2016
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery
|
January 18, 2022
Catchment Profile of Large Cochlear Implant Centers in the United States
Ashley M Nassiri, Meredith A Holcomb, Elizabeth L Perkins, et al.
Nature Communications
|
January 29, 2025
Precession modulates the poleward expansion of atmospheric circulation to the Arctic Ocean
Yi Zhong, Zhengyao Lu, Stefanie Kaboth-Bahr, 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.
American Journal of Medical Genetics. Part A
|
October 11, 2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Katherine A Rauen, Lisa Schoyer, Lisa Schill, et al.
Human Mutation
|
August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Mads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Page
of 23