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American Journal of Human Genetics
|
January 7, 2023
Genotype first: Clinical genomics research through a reverse phenotyping approach
Caralynn M Wilczewski, Justice Obasohan, Justin E Paschall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 20, 2017
A taxonomy of medical uncertainties in clinical genome sequencing
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, et al.
Genome Research
|
October 6, 1997
Characterization of short tandem repeats from thirty-one human telomeres
M Rosenberg, L Hui, J Ma, et al.
Journal of Medical Genetics
|
November 14, 2006
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
Jennifer J Johnston, Robert L Walker, Sean Davis, et al.
Stem Cell Research
|
June 25, 2019
Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation
Guibin Chen, Hui Jin, Zhen Yu, et al.
Nature Genetics
|
September 6, 2000
Mutations in MKKS cause Bardet-Biedl syndrome
A M Slavotinek, E M Stone, K Mykytyn, et al.
JAMA
|
July 26, 1995
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
W Guo, J S Mason, C G Stone, et al.
Clinical Genetics
|
February 1, 2018
Disclosure of cardiac variants of uncertain significance results in an exome cohort
T A Lawal, K L Lewis, J J Johnston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2019
Rethinking the "open future" argument against predictive genetic testing of children
Jeremy R Garrett, John D Lantos, Leslie G Biesecker, et al.
American Journal of Medical Genetics
|
October 2, 1996
Report from the workshop on Pallister-Hall syndrome and related phenotypes
L G Biesecker, M Abbott, J Allen, et al.
Page
of 48
Search research articles
Search
Showing results (331-340 of 475) with videos related to
Sort By:
Page
of 48
American Journal of Human Genetics
|
January 7, 2023
Genotype first: Clinical genomics research through a reverse phenotyping approach
Caralynn M Wilczewski, Justice Obasohan, Justin E Paschall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 20, 2017
A taxonomy of medical uncertainties in clinical genome sequencing
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, et al.
Genome Research
|
October 6, 1997
Characterization of short tandem repeats from thirty-one human telomeres
M Rosenberg, L Hui, J Ma, et al.
Journal of Medical Genetics
|
November 14, 2006
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
Jennifer J Johnston, Robert L Walker, Sean Davis, et al.
Stem Cell Research
|
June 25, 2019
Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation
Guibin Chen, Hui Jin, Zhen Yu, et al.
Nature Genetics
|
September 6, 2000
Mutations in MKKS cause Bardet-Biedl syndrome
A M Slavotinek, E M Stone, K Mykytyn, et al.
JAMA
|
July 26, 1995
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
W Guo, J S Mason, C G Stone, et al.
Clinical Genetics
|
February 1, 2018
Disclosure of cardiac variants of uncertain significance results in an exome cohort
T A Lawal, K L Lewis, J J Johnston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 22, 2019
Rethinking the "open future" argument against predictive genetic testing of children
Jeremy R Garrett, John D Lantos, Leslie G Biesecker, et al.
American Journal of Medical Genetics
|
October 2, 1996
Report from the workshop on Pallister-Hall syndrome and related phenotypes
L G Biesecker, M Abbott, J Allen, et al.
Page
of 48