Search research articles
Contact Us
Filters
Showing results (881-890 of 934) with videos related to
Page
of 94
Sort By:
Frontiers in Pharmacology
|
April 29, 2024
Early, precise, and safe clinical evaluation of the pharmacodynamic effects of novel agents in the intact human tumor microenvironment
Kenneth R Gundle, Karthik Rajasekaran, Jeffrey Houlton, et al.
Plos Genetics
|
March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
Mariella Simon, Elodie M Richard, Xinjian Wang, et al.
Circulation Research
|
December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
Donna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics
|
May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Caroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Irit Hochberg, Leigh A M Demain, Julie Richer, et al.
American Journal of Human Genetics
|
December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
Dagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Nature Genetics
|
July 21, 2015
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
Jimmy Z Liu, Suzanne van Sommeren, Hailiang Huang, et al.
American Journal of Human Genetics
|
December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
EMBO Molecular Medicine
|
November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Page
of 94
Search research articles
Search
Showing results (881-890 of 934) with videos related to
Sort By:
Page
of 94
Frontiers in Pharmacology
|
April 29, 2024
Early, precise, and safe clinical evaluation of the pharmacodynamic effects of novel agents in the intact human tumor microenvironment
Kenneth R Gundle, Karthik Rajasekaran, Jeffrey Houlton, et al.
Plos Genetics
|
March 26, 2015
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
Mariella Simon, Elodie M Richard, Xinjian Wang, et al.
Circulation Research
|
December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
Donna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics
|
May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Caroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Biallelic variants in <i>DAP3</i> result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Irit Hochberg, Leigh A M Demain, Julie Richer, et al.
American Journal of Human Genetics
|
December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome
Dagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Nature Genetics
|
July 21, 2015
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations
Jimmy Z Liu, Suzanne van Sommeren, Hailiang Huang, et al.
American Journal of Human Genetics
|
December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
EMBO Molecular Medicine
|
November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Page
of 94