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European Journal of Human Genetics : EJHG
|
July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
The New England Journal of Medicine
|
April 11, 2019
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease
Joseph M Tilghman, Albee Y Ling, Tychele N Turner, et al.
Genome Research
|
July 24, 2021
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity
Jakob M Goldmann, Juliet E Hampstead, Wendy S W Wong, et al.
Genome Biology and Evolution
|
February 1, 2024
The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection
Tristan J Hayeck, Yang Li, Timothy L Mosbruger, et al.
Annals of Clinical and Translational Neurology
|
March 31, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
Naeimeh Tayebi, Brian Leon-Ricardo, Kevin McCall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2018
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Hui Guo, Michael H Duyzend, Bradley P Coe, et al.
Human Mutation
|
September 2, 2022
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Jeffrey K Ng, Pankaj Vats, Elyn Fritz-Waters, et al.
NPJ Genomic Medicine
|
August 28, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, et al.
Nature
|
October 7, 2021
Single-cell epigenomics reveals mechanisms of human cortical development
Ryan S Ziffra, Chang N Kim, Jayden M Ross, et al.
Nature Genetics
|
July 27, 2021
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 65) with videos related to
Sort By:
Page
of 7
European Journal of Human Genetics : EJHG
|
July 7, 2024
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
Rodrigo Tzovenos Starosta, Nathaniel Jensen, Sophia Couteranis, et al.
The New England Journal of Medicine
|
April 11, 2019
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease
Joseph M Tilghman, Albee Y Ling, Tychele N Turner, et al.
Genome Research
|
July 24, 2021
Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity
Jakob M Goldmann, Juliet E Hampstead, Wendy S W Wong, et al.
Genome Biology and Evolution
|
February 1, 2024
The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection
Tristan J Hayeck, Yang Li, Timothy L Mosbruger, et al.
Annals of Clinical and Translational Neurology
|
March 31, 2023
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome
Naeimeh Tayebi, Brian Leon-Ricardo, Kevin McCall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 4, 2018
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Hui Guo, Michael H Duyzend, Bradley P Coe, et al.
Human Mutation
|
September 2, 2022
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project
Jeffrey K Ng, Pankaj Vats, Elyn Fritz-Waters, et al.
NPJ Genomic Medicine
|
August 28, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, et al.
Nature
|
October 7, 2021
Single-cell epigenomics reveals mechanisms of human cortical development
Ryan S Ziffra, Chang N Kim, Jayden M Ross, et al.
Nature Genetics
|
July 27, 2021
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, et al.
Page
of 7