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Human Mutation
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June 23, 2018
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Ida Höijer, Yu-Chih Tsai, Tyson A Clark, et al.
Life Science Alliance
|
May 22, 2024
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
Mariya Lysenkova Wiklander, Gustav Arvidsson, Ignas Bunikis, et al.
Genes
|
October 12, 2018
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
Adam Ameur, Huiwen Che, Marcel Martin, et al.
RNA (New York, N.Y.)
|
August 9, 2020
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Jillian Ramos, Melissa Proven, Jonatan Halvardson, et al.
Translational Psychiatry
|
November 19, 2020
Exploring autoantibody signatures in brain tissue from patients with severe mental illness
David Just, Anna Månberg, Nicholas Mitsios, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
Susan Zeesman, Małgorzata J M Nowaczyk, Ikuko Teshima, et al.
Human Mutation
|
January 26, 2013
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing
Joakim Klar, Maria Sobol, Atle Melberg, et al.
Journal of the National Cancer Institute
|
March 14, 2013
Genome-wide association study of susceptibility loci for cervical cancer
Dan Chen, Ivana Juko-Pecirep, Joanna Hammer, et al.
American Journal of Human Genetics
|
March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2
Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
Human Genetics
|
March 23, 2004
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease
Annica Johansson, Hagit Katzov, Henrik Zetterberg, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 103) with videos related to
Sort By:
Page
of 11
Human Mutation
|
June 23, 2018
Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
Ida Höijer, Yu-Chih Tsai, Tyson A Clark, et al.
Life Science Alliance
|
May 22, 2024
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
Mariya Lysenkova Wiklander, Gustav Arvidsson, Ignas Bunikis, et al.
Genes
|
October 12, 2018
De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
Adam Ameur, Huiwen Che, Marcel Martin, et al.
RNA (New York, N.Y.)
|
August 9, 2020
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
Jillian Ramos, Melissa Proven, Jonatan Halvardson, et al.
Translational Psychiatry
|
November 19, 2020
Exploring autoantibody signatures in brain tissue from patients with severe mental illness
David Just, Anna Månberg, Nicholas Mitsios, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
Susan Zeesman, Małgorzata J M Nowaczyk, Ikuko Teshima, et al.
Human Mutation
|
January 26, 2013
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing
Joakim Klar, Maria Sobol, Atle Melberg, et al.
Journal of the National Cancer Institute
|
March 14, 2013
Genome-wide association study of susceptibility loci for cervical cancer
Dan Chen, Ivana Juko-Pecirep, Joanna Hammer, et al.
American Journal of Human Genetics
|
March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2
Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
Human Genetics
|
March 23, 2004
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease
Annica Johansson, Hagit Katzov, Henrik Zetterberg, et al.
Page
of 11