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Science (New York, N.Y.)
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May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Neuron
|
January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
Elaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
Genome Research
|
March 22, 2019
Resolving the full spectrum of human genome variation using Linked-Reads
Patrick Marks, Sarah Garcia, Alvaro Martinez Barrio, et al.
Blood Cancer Discovery
|
September 27, 2021
<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing
Ellen M Beauchamp, Matthew Leventhal, Elsa Bernard, et al.
Science Translational Medicine
|
April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 24, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Michael C Sierant, Sheng Chih Jin, Kaya Bilguvar, et al.
American Journal of Human Genetics
|
October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Gina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
American Journal of Human Genetics
|
February 9, 2019
The Genetic Landscape of Diamond-Blackfan Anemia
Jacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
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Search research articles
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Showing results (111-120 of 153) with videos related to
Sort By:
Page
of 16
Science (New York, N.Y.)
|
May 9, 2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome
Manuel A Rivas, Matti Pirinen, Donald F Conrad, et al.
Neuron
|
January 29, 2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
Elaine T Lim, Soumya Raychaudhuri, Stephan J Sanders, et al.
Genome Research
|
March 22, 2019
Resolving the full spectrum of human genome variation using Linked-Reads
Patrick Marks, Sarah Garcia, Alvaro Martinez Barrio, et al.
Blood Cancer Discovery
|
September 27, 2021
<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing
Ellen M Beauchamp, Matthew Leventhal, Elsa Bernard, et al.
Science Translational Medicine
|
April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 24, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Michael C Sierant, Sheng Chih Jin, Kaya Bilguvar, et al.
American Journal of Human Genetics
|
October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Gina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
American Journal of Human Genetics
|
February 9, 2019
The Genetic Landscape of Diamond-Blackfan Anemia
Jacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Page
of 16