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The American Journal of Surgical Pathology
|
September 17, 2016
NRASQ61R Mutation-specific Immunohistochemistry Also Identifies the HRASQ61R Mutation in Medullary Thyroid Cancer and May Have a Role in Triaging Genetic Testing for MEN2
Jessica Reagh, Martyn Bullock, Juliana Andrici, et al.
Journal of Medical Genetics
|
January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Nature
|
November 17, 2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
Joshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
NPJ Genomic Medicine
|
July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative
Shira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Pathology
|
July 4, 2017
Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy
Fedaa Najdawi, Ashley Crook, Jayne Maidens, et al.
Human Mutation
|
September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Cellular and Molecular Gastroenterology and Hepatology
|
May 13, 2019
Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model
Jeremy A Goettel, Daniel Kotlarz, Rohini Emani, et al.
Inflammatory Bowel Diseases
|
December 14, 2019
Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies
Jodie Ouahed, Elizabeth Spencer, Daniel Kotlarz, et al.
Journal of Crohn'S & Colitis
|
April 2, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease
Lauren V Collen, David Y Kim, Michael Field, et al.
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of 14
Search research articles
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Showing results (81-90 of 136) with videos related to
Sort By:
Page
of 14
The American Journal of Surgical Pathology
|
September 17, 2016
NRASQ61R Mutation-specific Immunohistochemistry Also Identifies the HRASQ61R Mutation in Medullary Thyroid Cancer and May Have a Role in Triaging Genetic Testing for MEN2
Jessica Reagh, Martyn Bullock, Juliana Andrici, et al.
Journal of Medical Genetics
|
January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Nature
|
November 17, 2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair
Joshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
NPJ Genomic Medicine
|
July 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative
Shira Rockowitz, Nicholas LeCompte, Mary Carmack, et al.
Pathology
|
July 4, 2017
Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy
Fedaa Najdawi, Ashley Crook, Jayne Maidens, et al.
Human Mutation
|
September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, et al.
Cellular and Molecular Gastroenterology and Hepatology
|
May 13, 2019
Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model
Jeremy A Goettel, Daniel Kotlarz, Rohini Emani, et al.
Inflammatory Bowel Diseases
|
December 14, 2019
Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies
Jodie Ouahed, Elizabeth Spencer, Daniel Kotlarz, et al.
Journal of Crohn'S & Colitis
|
April 2, 2022
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease
Lauren V Collen, David Y Kim, Michael Field, et al.
Page
of 14