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Human Mutation
|
July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
Keith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
American Journal of Medical Genetics. Part A
|
April 24, 2012
Deletion of filamin A in two female patients with periventricular nodular heterotopia
Jodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 28, 2023
Applications of artificial intelligence in clinical laboratory genomics
Swaroop Aradhya, Flavia M Facio, Hillery Metz, et al.
American Journal of Human Genetics
|
March 20, 2021
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Rebecca Truty, Karen Ouyang, Susan Rojahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 28, 2021
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel
Dan Morgenstern-Kaplan, Jaime Raijman-Policar, Sore Majzner-Aronovich, et al.
Genesis (New York, N.Y. : 2000)
|
December 8, 2007
Genetic analysis of attractin homologs
Will P Walker, Swaroop Aradhya, Che-Lin Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 14, 2025
Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach
Mia J Gruzin, Matthew Hobbs, Rachel E Ellsworth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2012
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2026
Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders
Tali Ekstein, Sienna Aguilar, Emily M Russell, et al.
American Journal of Obstetrics and Gynecology
|
April 7, 2015
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings
Jeanne M Meck, Elizabeth Kramer Dugan, Ludmila Matyakhina, et al.
Page
of 9
Search research articles
Search
Showing results (31-40 of 87) with videos related to
Sort By:
Page
of 9
Human Mutation
|
July 1, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR
Keith Nykamp, Rebecca Truty, Darlene Riethmaier, et al.
American Journal of Medical Genetics. Part A
|
April 24, 2012
Deletion of filamin A in two female patients with periventricular nodular heterotopia
Jodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 28, 2023
Applications of artificial intelligence in clinical laboratory genomics
Swaroop Aradhya, Flavia M Facio, Hillery Metz, et al.
American Journal of Human Genetics
|
March 20, 2021
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Rebecca Truty, Karen Ouyang, Susan Rojahn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 28, 2021
Carrier screening in the Mexican Jewish community using a pan-ethnic expanded carrier screening NGS panel
Dan Morgenstern-Kaplan, Jaime Raijman-Policar, Sore Majzner-Aronovich, et al.
Genesis (New York, N.Y. : 2000)
|
December 8, 2007
Genetic analysis of attractin homologs
Will P Walker, Swaroop Aradhya, Che-Lin Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 14, 2025
Optimizing gene panels for equitable reproductive carrier screening: The Goldilocks approach
Mia J Gruzin, Matthew Hobbs, Rachel E Ellsworth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 3, 2012
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
Swaroop Aradhya, Rachel Lewis, Tahrra Bonaga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2026
Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders
Tali Ekstein, Sienna Aguilar, Emily M Russell, et al.
American Journal of Obstetrics and Gynecology
|
April 7, 2015
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings
Jeanne M Meck, Elizabeth Kramer Dugan, Ludmila Matyakhina, et al.
Page
of 9