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Journal of the American College of Surgeons
|
May 12, 2026
Toolkit for Cross-Mentoring Matching
Christin Collins
Blood Cells, Molecules & Diseases
|
May 8, 2014
A novel variant mutation for congenital dyserythropoietic anemia, type II
Joo Y Song, Anjali Pawar, Christin Collins
Human Mutation
|
April 14, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing
Fen Guo, Ruby Liu, Yinghong Pan, et al.
Journal of Autoimmune Diseases
|
November 2, 2005
Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes
Sharad Purohit, Robert Podolsky, Christin Collins, et al.
Annals of Neurology
|
November 8, 2014
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, et al.
Molecular Genetics and Metabolism
|
June 29, 2013
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing
Melanie A Jones, Devin Rhodenizer, Cristina da Silva, et al.
The Journal of Clinical Investigation
|
April 3, 2009
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"
Alal Eran, Kaitlin R Graham, Kayla Vatalaro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 15, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Fen Guo, Ruby Liu, Yinghong Pan, et al.
JAMA Network Open
|
July 31, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
Jorune Balciuniene, Ruby Liu, Lora Bean, et al.
Annals of Clinical and Translational Neurology
|
December 20, 2018
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Journal of the American College of Surgeons
|
May 12, 2026
Toolkit for Cross-Mentoring Matching
Christin Collins
Blood Cells, Molecules & Diseases
|
May 8, 2014
A novel variant mutation for congenital dyserythropoietic anemia, type II
Joo Y Song, Anjali Pawar, Christin Collins
Human Mutation
|
April 14, 2025
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing
Fen Guo, Ruby Liu, Yinghong Pan, et al.
Journal of Autoimmune Diseases
|
November 2, 2005
Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes
Sharad Purohit, Robert Podolsky, Christin Collins, et al.
Annals of Neurology
|
November 8, 2014
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, et al.
Molecular Genetics and Metabolism
|
June 29, 2013
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing
Melanie A Jones, Devin Rhodenizer, Cristina da Silva, et al.
The Journal of Clinical Investigation
|
April 3, 2009
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"
Alal Eran, Kaitlin R Graham, Kayla Vatalaro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 15, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Fen Guo, Ruby Liu, Yinghong Pan, et al.
JAMA Network Open
|
July 31, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
Jorune Balciuniene, Ruby Liu, Lora Bean, et al.
Annals of Clinical and Translational Neurology
|
December 20, 2018
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
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of 2