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Plos Genetics
|
June 5, 2020
In vivo modeling of metastatic human high-grade serous ovarian cancer in mice
Olga Kim, Eun Young Park, David L Klinkebiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
JAMA
|
October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencing
Yaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine
|
May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Nature Genetics
|
July 10, 2007
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Brent W Zanke, Celia M T Greenwood, Jagadish Rangrej, et al.
Genome Medicine
|
March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
American Journal of Human Genetics
|
September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Tamar Harel, Wan Hee Yoon, Caterina Garone, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
June 20, 2019
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
JAMA Pediatrics
|
October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
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Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
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You have reached the last page of results.
This site can display upto 20 results.
Plos Genetics
|
June 5, 2020
In vivo modeling of metastatic human high-grade serous ovarian cancer in mice
Olga Kim, Eun Young Park, David L Klinkebiel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
JAMA
|
October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencing
Yaping Yang, Donna M Muzny, Fan Xia, et al.
Genome Medicine
|
May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
Nature Genetics
|
July 10, 2007
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Brent W Zanke, Celia M T Greenwood, Jagadish Rangrej, et al.
Genome Medicine
|
March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome cases
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
American Journal of Human Genetics
|
September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Tamar Harel, Wan Hee Yoon, Caterina Garone, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
June 20, 2019
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
JAMA Pediatrics
|
October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
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