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American Journal of Medical Genetics. Part A
|
February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
HGG Advances
|
June 1, 2022
Accounting for population structure in genetic studies of cystic fibrosis
Hanley Kingston, Adrienne M Stilp, William Gordon, et al.
Plos Genetics
|
December 12, 2018
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Hongjian Qi, Lan Yu, Xueya Zhou, et al.
Plos Genetics
|
April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
The New England Journal of Medicine
|
August 21, 2014
Somatic mutations in cerebral cortical malformations
Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Human Molecular Genetics
|
July 31, 2018
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease
Dandi Qiao, Asher Ameli, Dmitry Prokopenko, et al.
American Journal of Human Genetics
|
October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
Science (New York, N.Y.)
|
August 8, 2015
Global diversity, population stratification, and selection of human copy-number variation
Peter H Sudmant, Swapan Mallick, Bradley J Nelson, et al.
American Journal of Human Genetics
|
July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Ingrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Page
of 6
Search research articles
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Showing results (41-50 of 53) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
HGG Advances
|
June 1, 2022
Accounting for population structure in genetic studies of cystic fibrosis
Hanley Kingston, Adrienne M Stilp, William Gordon, et al.
Plos Genetics
|
December 12, 2018
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Hongjian Qi, Lan Yu, Xueya Zhou, et al.
Plos Genetics
|
April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects
James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
The New England Journal of Medicine
|
August 21, 2014
Somatic mutations in cerebral cortical malformations
Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Human Molecular Genetics
|
July 31, 2018
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease
Dandi Qiao, Asher Ameli, Dmitry Prokopenko, et al.
American Journal of Human Genetics
|
October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
Science (New York, N.Y.)
|
August 8, 2015
Global diversity, population stratification, and selection of human copy-number variation
Peter H Sudmant, Swapan Mallick, Bradley J Nelson, et al.
American Journal of Human Genetics
|
July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Ingrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Page
of 6