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Scientific Reports
|
April 18, 2024
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
Hyeyeun Lim, Marie-Claude Gingras, Jing Zhao, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 23, 2014
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis
Abbhirami Rajagopal, Débora Braslavsky, James T Lu, et al.
Circulation. Cardiovascular Genetics
|
May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
Matthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
Plos Neglected Tropical Diseases
|
February 1, 2012
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence
Darina Cejková, Marie Zobaníková, Lei Chen, et al.
Genomics
|
June 8, 2013
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA
Chad M Schafer, Nicholas G Campbell, Guiqing Cai, et al.
Cold Spring Harbor Molecular Case Studies
|
December 1, 2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
Cancer Genetics
|
March 2, 2011
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel
Sharon E Plon, David A Wheeler, Louise C Strong, et al.
Nature Methods
|
October 16, 2007
Direct selection of human genomic loci by microarray hybridization
Thomas J Albert, Michael N Molla, Donna M Muzny, et al.
Page
of 117
Search research articles
Search
Showing results (671-680 of 1,165) with videos related to
Sort By:
Page
of 117
Scientific Reports
|
April 18, 2024
Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
Hyeyeun Lim, Marie-Claude Gingras, Jing Zhao, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 12, 2014
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia
Claudia Gonzaga-Jauregui, Sabina Mir, Samantha Penney, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 23, 2014
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis
Abbhirami Rajagopal, Débora Braslavsky, James T Lu, et al.
Circulation. Cardiovascular Genetics
|
May 31, 2015
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
Matthew N Bainbridge, Erica E Davis, Wen-Yee Choi, et al.
Plos Neglected Tropical Diseases
|
February 1, 2012
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence
Darina Cejková, Marie Zobaníková, Lei Chen, et al.
Genomics
|
June 8, 2013
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA
Chad M Schafer, Nicholas G Campbell, Guiqing Cai, et al.
Cold Spring Harbor Molecular Case Studies
|
December 1, 2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
Cancer Genetics
|
March 2, 2011
Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel
Sharon E Plon, David A Wheeler, Louise C Strong, et al.
Nature Methods
|
October 16, 2007
Direct selection of human genomic loci by microarray hybridization
Thomas J Albert, Michael N Molla, Donna M Muzny, et al.
Page
of 117