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Journal of Vascular Anomalies
|
June 17, 2026
Primary Upper Extremity Lymphedema Caused by a <i>CELSR1</i> Variant
Christopher L Sudduth, Patrick J Smits, Yu Sheng Cheng, et al.
Biorxiv : the Preprint Server for Biology
|
September 16, 2024
Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2025
Unique signatures of highly constrained genes across publicly available genomic databases
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, et al.
Journal of Personalized Medicine
|
December 24, 2021
Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome
Qifei Li, Jill A Madden, Jasmine Lin, et al.
Comparative Medicine
|
April 16, 2013
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2
Thomas B Bartnikas, Sheryl J Wildt, Amy E Wineinger, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 9, 2024
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation
Shiyu Luo, Stuart Rollins, Klaus Schmitz-Abe, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2023
High number of candidate gene variants are identified as disease-causing in a period of 4 years
Sonia Hills, Qifei Li, Jill A Madden, et al.
Blood
|
November 30, 2013
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
Vijay G Sankaran, Mugdha Joshi, Akshat Agrawal, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
May 10, 2024
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
Qifei Li, Jasmine Lin, Shiyu Luo, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 60) with videos related to
Sort By:
Page
of 6
Journal of Vascular Anomalies
|
June 17, 2026
Primary Upper Extremity Lymphedema Caused by a <i>CELSR1</i> Variant
Christopher L Sudduth, Patrick J Smits, Yu Sheng Cheng, et al.
Biorxiv : the Preprint Server for Biology
|
September 16, 2024
Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2025
Unique signatures of highly constrained genes across publicly available genomic databases
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, et al.
Journal of Personalized Medicine
|
December 24, 2021
Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome
Qifei Li, Jill A Madden, Jasmine Lin, et al.
Comparative Medicine
|
April 16, 2013
A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2
Thomas B Bartnikas, Sheryl J Wildt, Amy E Wineinger, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 9, 2024
The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation
Shiyu Luo, Stuart Rollins, Klaus Schmitz-Abe, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2023
High number of candidate gene variants are identified as disease-causing in a period of 4 years
Sonia Hills, Qifei Li, Jill A Madden, et al.
Blood
|
November 30, 2013
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
Vijay G Sankaran, Mugdha Joshi, Akshat Agrawal, et al.
JIMD Reports
|
November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants
Sarah U Morton, Edward G Neilan, Roy W A Peake, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
May 10, 2024
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex
Qifei Li, Jasmine Lin, Shiyu Luo, et al.
Page
of 6