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American Journal of Human Genetics
|
August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Gastroenterology
|
December 14, 2011
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome
Christine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, et al.
Investigative Ophthalmology & Visual Science
|
July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Esmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
Danny Halim, Michael P Wilson, Daniel Oliver, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
November 23, 2020
Adjuvant chemotherapy is superior to chemoradiation after D2 surgery for gastric cancer in the per-protocol analysis of the randomized CRITICS trial
W O de Steur, R M van Amelsfoort, H H Hartgrink, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al.
The New England Journal of Medicine
|
March 19, 2015
Polysaccharide conjugate vaccine against pneumococcal pneumonia in adults
Marc J M Bonten, Susanne M Huijts, Marieke Bolkenbaas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Human Molecular Genetics
|
October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Page
of 46
Search research articles
Search
Showing results (441-450 of 456) with videos related to
Sort By:
Page
of 46
American Journal of Human Genetics
|
August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
Josephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.
Gastroenterology
|
December 14, 2011
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome
Christine S Van Der Werf, Tara D Wabbersen, Nai-Hua Hsiao, et al.
Investigative Ophthalmology & Visual Science
|
July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Esmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2017
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice
Danny Halim, Michael P Wilson, Daniel Oliver, et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology
|
November 23, 2020
Adjuvant chemotherapy is superior to chemoradiation after D2 surgery for gastric cancer in the per-protocol analysis of the randomized CRITICS trial
W O de Steur, R M van Amelsfoort, H H Hartgrink, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, et al.
The New England Journal of Medicine
|
March 19, 2015
Polysaccharide conjugate vaccine against pneumococcal pneumonia in adults
Marc J M Bonten, Susanne M Huijts, Marieke Bolkenbaas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
Human Molecular Genetics
|
October 6, 2016
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease
Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Page
of 46