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Human Mutation
|
August 20, 2015
Diagnostic interpretation of array data using public databases and internet sources
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Health Affairs (Project Hope)
|
May 8, 2018
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience
Marc S Williams, Adam H Buchanan, F Daniel Davis, et al.
Ebiomedicine
|
March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts
Jodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
Prenatal Diagnosis
|
May 3, 2026
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board
Abdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2020
Clinical outcomes of a genomic screening program for actionable genetic conditions
Adam H Buchanan, H Lester Kirchner, Marci L B Schwartz, et al.
Human Molecular Genetics
|
April 1, 1997
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain
M E Ross, K M Allen, A K Srivastava, et al.
The New England Journal of Medicine
|
December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Page
of 39
Search research articles
Search
Showing results (341-350 of 388) with videos related to
Sort By:
Page
of 39
Human Mutation
|
August 20, 2015
Diagnostic interpretation of array data using public databases and internet sources
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Health Affairs (Project Hope)
|
May 8, 2018
Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience
Marc S Williams, Adam H Buchanan, F Daniel Davis, et al.
Ebiomedicine
|
March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts
Jodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
Prenatal Diagnosis
|
May 3, 2026
Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board
Abdullah H Alfalah, Hamad Alzaidan, Ahmed Alfares, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2015
Clinical phenotype of the recurrent 1q21.1 copy-number variant
Raphael Bernier, Kyle J Steinman, Beau Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 1, 2020
Clinical outcomes of a genomic screening program for actionable genetic conditions
Adam H Buchanan, H Lester Kirchner, Marci L B Schwartz, et al.
Human Molecular Genetics
|
April 1, 1997
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain
M E Ross, K M Allen, A K Srivastava, et al.
The New England Journal of Medicine
|
December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Page
of 39