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American Journal of Medical Genetics. Part A
|
February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
Diabetes
|
June 29, 2004
Remapping the insulin gene/IDDM2 locus in type 1 diabetes
Bryan J Barratt, Felicity Payne, Chris E Lowe, et al.
NPJ Genomic Medicine
|
May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
Alexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Human Molecular Genetics
|
January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Robert Behne, Julian Teinert, Miriam Wimmer, et al.
The Canadian Journal of Cardiology
|
January 15, 2026
Current Challenges in Cardiac Device Management: Guidance for Practicing Clinicians: A Canadian Journal of Cardiology White Paper
Jacqueline Joza, Francois Philippon, Derek S Chew, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
A haplotype-resolved view of human gene regulation
Mitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
The Journal of Pediatrics
|
February 15, 2015
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA
Valerie L Luks, Nolan Kamitaki, Matthew P Vivero, et al.
JAMA
|
November 4, 2004
Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes
John P A Ioannidis, Stuart H Ralston, Simon T Bennett, et al.
Page
of 90
Search research articles
Search
Showing results (861-870 of 891) with videos related to
Sort By:
Page
of 90
American Journal of Medical Genetics. Part A
|
February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
Diabetes
|
June 29, 2004
Remapping the insulin gene/IDDM2 locus in type 1 diabetes
Bryan J Barratt, Felicity Payne, Chris E Lowe, et al.
NPJ Genomic Medicine
|
May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing
Alexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Human Molecular Genetics
|
January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Robert Behne, Julian Teinert, Miriam Wimmer, et al.
The Canadian Journal of Cardiology
|
January 15, 2026
Current Challenges in Cardiac Device Management: Guidance for Practicing Clinicians: A Canadian Journal of Cardiology White Paper
Jacqueline Joza, Francois Philippon, Derek S Chew, et al.
Biorxiv : the Preprint Server for Biology
|
June 12, 2025
A haplotype-resolved view of human gene regulation
Mitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.
American Journal of Human Genetics
|
September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomes
Michael O Dorschner, Laura M Amendola, Emily H Turner, et al.
The Journal of Pediatrics
|
February 15, 2015
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA
Valerie L Luks, Nolan Kamitaki, Matthew P Vivero, et al.
JAMA
|
November 4, 2004
Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes
John P A Ioannidis, Stuart H Ralston, Simon T Bennett, et al.
Page
of 90