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Human Molecular Genetics
|
March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
Jessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planning
Diane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Mutation
|
October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
Heidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Journal of Clinical Medicine
|
May 14, 2025
Cardiometabolic Risk in Chronic Spinal Cord Injury: A Systematic Review with Meta-Analysis and Temporal and Geographical Trends
Gary J Farkas, Lizeth J Caldera, Daniel D Hodgkiss, et al.
American Journal of Human Genetics
|
May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Page
of 67
Search research articles
Search
Showing results (631-640 of 668) with videos related to
Sort By:
Page
of 67
Human Molecular Genetics
|
March 1, 2011
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
Jessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planning
Diane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Mutation
|
October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation
Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 8, 2024
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
Heidi L Cope, Laura V Milko, Elizabeth R Jalazo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Journal of Clinical Medicine
|
May 14, 2025
Cardiometabolic Risk in Chronic Spinal Cord Injury: A Systematic Review with Meta-Analysis and Temporal and Geographical Trends
Gary J Farkas, Lizeth J Caldera, Daniel D Hodgkiss, et al.
American Journal of Human Genetics
|
May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Page
of 67