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BMC Medical Genomics
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May 18, 2021
Genome-wide copy number variations in a large cohort of bantu African children
Feyza Yilmaz, Megan Null, David Astling, et al.
Human Molecular Genetics
|
April 28, 2017
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
Anita M Quintana, Hung-Chun Yu, Alison Brebner, et al.
Nature Genetics
|
February 28, 2018
The human noncoding genome defined by genetic diversity
Julia di Iulio, Istvan Bartha, Emily H M Wong, et al.
Pediatric Neurology
|
April 2, 2017
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, et al.
Genome Research
|
November 9, 2007
Targeted discovery of novel human exons by comparative genomics
Adam Siepel, Mark Diekhans, Brona Brejová, et al.
Journal of Medical Genetics
|
March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.
American Journal of Human Genetics
|
September 10, 2013
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, et al.
Genome Medicine
|
January 12, 2020
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Ilan Shomorony, Elizabeth T Cirulli, Lei Huang, et al.
Nature Genetics
|
March 7, 2017
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Tao Long, Michael Hicks, Hung-Chun Yu, et al.
American Journal of Human Genetics
|
March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
F-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
BMC Medical Genomics
|
May 18, 2021
Genome-wide copy number variations in a large cohort of bantu African children
Feyza Yilmaz, Megan Null, David Astling, et al.
Human Molecular Genetics
|
April 28, 2017
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
Anita M Quintana, Hung-Chun Yu, Alison Brebner, et al.
Nature Genetics
|
February 28, 2018
The human noncoding genome defined by genetic diversity
Julia di Iulio, Istvan Bartha, Emily H M Wong, et al.
Pediatric Neurology
|
April 2, 2017
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, et al.
Genome Research
|
November 9, 2007
Targeted discovery of novel human exons by comparative genomics
Adam Siepel, Mark Diekhans, Brona Brejová, et al.
Journal of Medical Genetics
|
March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.
American Journal of Human Genetics
|
September 10, 2013
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, et al.
Genome Medicine
|
January 12, 2020
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data
Ilan Shomorony, Elizabeth T Cirulli, Lei Huang, et al.
Nature Genetics
|
March 7, 2017
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Tao Long, Michael Hicks, Hung-Chun Yu, et al.
American Journal of Human Genetics
|
March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
F-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Page
of 3