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European Journal of Human Genetics : EJHG
|
July 3, 2014
Using whole-exome sequencing to identify variants inherited from mosaic parents
Jonathan J Rios, Mauricio R Delgado
Journal of the Pediatric Orthopaedic Society of North America
|
August 4, 2025
Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1
Aysha Khalid, Nandina Paria, Jonathan J Rios
Pediatric Neurology
|
January 19, 2024
A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias
Brooke M Marvel, Linsley Smith, Jonathan J Rios, et al.
Frontiers in Cell and Developmental Biology
|
October 16, 2023
Hyperactive KRAS/MAPK signaling disrupts normal lymphatic vessel architecture and function
Lorenzo M Fernandes, Jeffrey Tresemer, Jing Zhang, et al.
The Journal of Bone and Joint Surgery. American Volume
|
April 1, 2025
Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis
Nandina Paria, Ila Oxendine, David Podeszwa, et al.
Nature Cell Biology
|
July 18, 2017
Bone marrow adipocytes promote the regeneration of stem cells and haematopoiesis by secreting SCF
Bo O Zhou, Hua Yu, Rui Yue, et al.
Human Molecular Genetics
|
October 27, 2012
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Jonathan J Rios, Nandina Paria, Dennis K Burns, et al.
Clinical Case Reports
|
September 5, 2020
Novel homozygous variant in <i>WISP3</i> in a family with unrecognized progressive pseudorheumatoid dysplasia
Chandreshkumar Patel, Anas M Khanshour, David Wilkes, et al.
Hepatology (Baltimore, Md.)
|
November 19, 2011
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology
Vered Molho-Pessach, Jonathan J Rios, Chao Xing, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2011
Deletion of GPIHBP1 causing severe chylomicronemia
Jonathan J Rios, Savitha Shastry, Juan Jasso, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 55) with videos related to
Sort By:
Page
of 6
European Journal of Human Genetics : EJHG
|
July 3, 2014
Using whole-exome sequencing to identify variants inherited from mosaic parents
Jonathan J Rios, Mauricio R Delgado
Journal of the Pediatric Orthopaedic Society of North America
|
August 4, 2025
Molecular Basis of Fracture Pseudarthrosis Associated with Neurofibromatosis Type 1
Aysha Khalid, Nandina Paria, Jonathan J Rios
Pediatric Neurology
|
January 19, 2024
A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias
Brooke M Marvel, Linsley Smith, Jonathan J Rios, et al.
Frontiers in Cell and Developmental Biology
|
October 16, 2023
Hyperactive KRAS/MAPK signaling disrupts normal lymphatic vessel architecture and function
Lorenzo M Fernandes, Jeffrey Tresemer, Jing Zhang, et al.
The Journal of Bone and Joint Surgery. American Volume
|
April 1, 2025
Molecular Evidence Supporting MEK Inhibitor Therapy in NF1 Pseudarthrosis
Nandina Paria, Ila Oxendine, David Podeszwa, et al.
Nature Cell Biology
|
July 18, 2017
Bone marrow adipocytes promote the regeneration of stem cells and haematopoiesis by secreting SCF
Bo O Zhou, Hua Yu, Rui Yue, et al.
Human Molecular Genetics
|
October 27, 2012
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly
Jonathan J Rios, Nandina Paria, Dennis K Burns, et al.
Clinical Case Reports
|
September 5, 2020
Novel homozygous variant in <i>WISP3</i> in a family with unrecognized progressive pseudorheumatoid dysplasia
Chandreshkumar Patel, Anas M Khanshour, David Wilkes, et al.
Hepatology (Baltimore, Md.)
|
November 19, 2011
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology
Vered Molho-Pessach, Jonathan J Rios, Chao Xing, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2011
Deletion of GPIHBP1 causing severe chylomicronemia
Jonathan J Rios, Savitha Shastry, Juan Jasso, et al.
Page
of 6