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Molecular Genetics and Metabolism
|
November 3, 2023
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing
Connolly Steigerwald, Jill Borsuk, John Pappas, et al.
G3 (Bethesda, Md.)
|
February 9, 2018
The Molecular and Genetic Characterization of Second Chromosome Balancers in <i>Drosophila melanogaster</i>
Danny E Miller, Kevin R Cook, Elizabeth A Hemenway, et al.
BMC Biology
|
January 10, 2020
Long live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data
Ellie E Armstrong, Ryan W Taylor, Danny E Miller, et al.
Plos Genetics
|
December 17, 2020
The role of gene dosage in budding yeast centrosome scaling and spontaneous diploidization
Jingjing Chen, Zhiyong Xiong, Danny E Miller, et al.
Journal of Translational Medicine
|
June 10, 2023
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
Stephanie U Greer, Jacquelin Botello, Donna Hongo, et al.
G3 (Bethesda, Md.)
|
July 19, 2018
Rapid Low-Cost Assembly of the <i>Drosophila melanogaster</i> Reference Genome Using Low-Coverage, Long-Read Sequencing
Edwin A Solares, Mahul Chakraborty, Danny E Miller, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 24, 2016
Rare recombination events generate sequence diversity among balancer chromosomes in Drosophila melanogaster
Danny E Miller, Kevin R Cook, Nazanin Yeganeh Kazemi, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 18, 2025
Bidirectional disruption of <i>GNAS</i> transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B
Yorihiro Iwasaki, Monica Reyes, Anna Ryabets-Lienhard, et al.
Neurology. Genetics
|
July 26, 2024
Clinicopathologic Characterization of 2 Individuals With <i>TBK1</i> Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series
Kimiko Domoto-Reilly, B Jane Distad, Danny E Miller, et al.
Orphanet Journal of Rare Diseases
|
November 4, 2025
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
Lucy N Wainaina Mungai, Charles Njeru, Allan Njoroge, et al.
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Search research articles
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Showing results (31-40 of 112) with videos related to
Sort By:
Page
of 12
Molecular Genetics and Metabolism
|
November 3, 2023
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing
Connolly Steigerwald, Jill Borsuk, John Pappas, et al.
G3 (Bethesda, Md.)
|
February 9, 2018
The Molecular and Genetic Characterization of Second Chromosome Balancers in <i>Drosophila melanogaster</i>
Danny E Miller, Kevin R Cook, Elizabeth A Hemenway, et al.
BMC Biology
|
January 10, 2020
Long live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data
Ellie E Armstrong, Ryan W Taylor, Danny E Miller, et al.
Plos Genetics
|
December 17, 2020
The role of gene dosage in budding yeast centrosome scaling and spontaneous diploidization
Jingjing Chen, Zhiyong Xiong, Danny E Miller, et al.
Journal of Translational Medicine
|
June 10, 2023
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
Stephanie U Greer, Jacquelin Botello, Donna Hongo, et al.
G3 (Bethesda, Md.)
|
July 19, 2018
Rapid Low-Cost Assembly of the <i>Drosophila melanogaster</i> Reference Genome Using Low-Coverage, Long-Read Sequencing
Edwin A Solares, Mahul Chakraborty, Danny E Miller, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 24, 2016
Rare recombination events generate sequence diversity among balancer chromosomes in Drosophila melanogaster
Danny E Miller, Kevin R Cook, Nazanin Yeganeh Kazemi, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 18, 2025
Bidirectional disruption of <i>GNAS</i> transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B
Yorihiro Iwasaki, Monica Reyes, Anna Ryabets-Lienhard, et al.
Neurology. Genetics
|
July 26, 2024
Clinicopathologic Characterization of 2 Individuals With <i>TBK1</i> Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series
Kimiko Domoto-Reilly, B Jane Distad, Danny E Miller, et al.
Orphanet Journal of Rare Diseases
|
November 4, 2025
Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
Lucy N Wainaina Mungai, Charles Njeru, Allan Njoroge, et al.
Page
of 12