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Journal of Medical Genetics
|
November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Emma Tudini, Aimee L Davidson, Uwe Dressel, et al.
Inflammatory Bowel Diseases
|
August 8, 2018
Mucosal Gene Expression in Pediatric and Adult Patients With Ulcerative Colitis Permits Modeling of Ideal Biopsy Collection Strategy for Transcriptomic Analysis
Jodie Ouahed, William Gordon, James B Canavan, et al.
Nature Genetics
|
May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
The American Journal of Surgical Pathology
|
November 18, 2015
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings
Wesley J Harrison, Juliana Andrici, Fiona Maclean, et al.
Molecular Autism
|
May 11, 2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Emma K Baker, Marta Arpone, Solange M Aliaga, et al.
American Journal of Human Genetics
|
July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Annabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Journal of Medical Genetics
|
September 12, 2018
Bayesian approach to determining penetrance of pathogenic SDH variants
Diana E Benn, Ying Zhu, Katrina A Andrews, et al.
BMJ Open
|
May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Frontiers in Molecular Neuroscience
|
March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Raman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Gastroenterology
|
October 4, 2016
Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency
Dror S Shouval, Amlan Biswas, Yu Hui Kang, et al.
Page
of 14
Search research articles
Search
Showing results (91-100 of 136) with videos related to
Sort By:
Page
of 14
Journal of Medical Genetics
|
November 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Emma Tudini, Aimee L Davidson, Uwe Dressel, et al.
Inflammatory Bowel Diseases
|
August 8, 2018
Mucosal Gene Expression in Pediatric and Adult Patients With Ulcerative Colitis Permits Modeling of Ideal Biopsy Collection Strategy for Transcriptomic Analysis
Jodie Ouahed, William Gordon, James B Canavan, et al.
Nature Genetics
|
May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Cheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
The American Journal of Surgical Pathology
|
November 18, 2015
Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings
Wesley J Harrison, Juliana Andrici, Fiona Maclean, et al.
Molecular Autism
|
May 11, 2019
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Emma K Baker, Marta Arpone, Solange M Aliaga, et al.
American Journal of Human Genetics
|
July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Annabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Journal of Medical Genetics
|
September 12, 2018
Bayesian approach to determining penetrance of pathogenic SDH variants
Diana E Benn, Ying Zhu, Katrina A Andrews, et al.
BMJ Open
|
May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Frontiers in Molecular Neuroscience
|
March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
Raman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Gastroenterology
|
October 4, 2016
Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency
Dror S Shouval, Amlan Biswas, Yu Hui Kang, et al.
Page
of 14