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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Plos One
|
November 24, 2011
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy
Ana C Xavier, Holly Edwards, Alan A Dombkowski, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel features
Tugce B Balci, Alana Strong, Jennifer M Kalish, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
April 13, 2025
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program
Tugce B Balci, Laila C Schenkel, Cassandra Rastin, et al.
The Journal of Clinical Investigation
|
May 5, 2015
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
Anindita Basak, Miroslava Hancarova, Jacob C Ulirsch, et al.
Scandinavian Journal of Rheumatology
|
December 12, 2022
Comparison of demographic, clinic and radiological features of patients with axial spondyloarthritis accompanying familial Mediterranean fever to patients with each condition alone
M Kiracı, E Bilgin, E Duran, et al.
American Journal of Medical Genetics. Part A
|
May 31, 2021
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
Caitlin A Chang, Renee Perrier, Kyle C Kurek, et al.
Clinical Genetics
|
June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 27, 2021
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Clinical Genetics
|
February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing
T B Balci, T Hartley, Y Xi, et al.
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of 6
Search research articles
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Showing results (31-40 of 56) with videos related to
Sort By:
Page
of 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Plos One
|
November 24, 2011
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy
Ana C Xavier, Holly Edwards, Alan A Dombkowski, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2020
Tatton-Brown-Rahman syndrome: Six individuals with novel features
Tugce B Balci, Alana Strong, Jennifer M Kalish, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
April 13, 2025
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program
Tugce B Balci, Laila C Schenkel, Cassandra Rastin, et al.
The Journal of Clinical Investigation
|
May 5, 2015
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
Anindita Basak, Miroslava Hancarova, Jacob C Ulirsch, et al.
Scandinavian Journal of Rheumatology
|
December 12, 2022
Comparison of demographic, clinic and radiological features of patients with axial spondyloarthritis accompanying familial Mediterranean fever to patients with each condition alone
M Kiracı, E Bilgin, E Duran, et al.
American Journal of Medical Genetics. Part A
|
May 31, 2021
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
Caitlin A Chang, Renee Perrier, Kyle C Kurek, et al.
Clinical Genetics
|
June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 27, 2021
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
Clinical Genetics
|
February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing
T B Balci, T Hartley, Y Xi, et al.
Page
of 6