Search research articles
Contact Us
Filters
Showing results (791-800 of 826) with videos related to
Page
of 83
Sort By:
European Journal of Human Genetics : EJHG
|
August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
Julia Volpi, Xiaonan Zhao, Nichole Owen, et al.
Nature Genetics
|
September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Silvia Cappello, Mary J Gray, Caroline Badouel, et al.
BMC Nursing
|
August 22, 2023
The ACCELERATE Plus (assessment and communication excellence for safe patient outcomes) Trial Protocol: a stepped-wedge cluster randomised trial, cost-benefit analysis, and process evaluation
Mark Liu, Susan Whittam, Anna Thornton, et al.
Nature Genetics
|
February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
|
November 27, 2018
Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis
Alain M Schoepfer, Ikuo Hirano, Michael Coslovsky, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
American Journal of Human Genetics
|
March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Sandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Nature Genetics
|
February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Irene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Emerging Infectious Diseases
|
November 18, 2017
Avian Influenza A(H7N2) Virus in Human Exposed to Sick Cats, New York, USA, 2016
Atanaska Marinova-Petkova, Jen Laplante, Yunho Jang, et al.
Prenatal Diagnosis
|
November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
Karen L Stals, Matthew Wakeling, Júlia Baptista, et al.
Page
of 83
Search research articles
Search
Showing results (791-800 of 826) with videos related to
Sort By:
Page
of 83
European Journal of Human Genetics : EJHG
|
August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
Julia Volpi, Xiaonan Zhao, Nichole Owen, et al.
Nature Genetics
|
September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Silvia Cappello, Mary J Gray, Caroline Badouel, et al.
BMC Nursing
|
August 22, 2023
The ACCELERATE Plus (assessment and communication excellence for safe patient outcomes) Trial Protocol: a stepped-wedge cluster randomised trial, cost-benefit analysis, and process evaluation
Mark Liu, Susan Whittam, Anna Thornton, et al.
Nature Genetics
|
February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association
|
November 27, 2018
Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis
Alain M Schoepfer, Ikuo Hirano, Michael Coslovsky, et al.
European Journal of Human Genetics : EJHG
|
November 29, 2017
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, et al.
American Journal of Human Genetics
|
March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Sandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Nature Genetics
|
February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Irene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Emerging Infectious Diseases
|
November 18, 2017
Avian Influenza A(H7N2) Virus in Human Exposed to Sick Cats, New York, USA, 2016
Atanaska Marinova-Petkova, Jen Laplante, Yunho Jang, et al.
Prenatal Diagnosis
|
November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing
Karen L Stals, Matthew Wakeling, Júlia Baptista, et al.
Page
of 83