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Clinical Genetics
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November 8, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery
Kristin Theobald, Amelle Shillington, Farrah Jackson, et al.
BMC Neurology
|
April 23, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review
Kochakorn Buasri, Kristin Theobald, Devesh C Pant, et al.
Public Health Reports (Washington, D.C. : 1974)
|
September 7, 2025
The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study
Jonathan H Sussman, Mert Marcel Dagli, Shira L Wald, et al.
Bone
|
May 26, 2018
Mechanical properties of infant bone
Catherine G Ambrose, Miriam Soto Martinez, Xiaohong Bi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 25, 2014
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation
Caressa D Lietman, Ronit Marom, Elda Munivez, et al.
Science Translational Medicine
|
March 15, 2013
Proteoglycan 4 expression protects against the development of osteoarthritis
Merry Z C Ruan, Ayelet Erez, Kilian Guse, et al.
European Journal of Sport Science
|
February 13, 2018
Caffeine use in a Super Rugby game and its relationship to post-game sleep
Ian C Dunican, Charles C Higgins, Maddison J Jones, et al.
Clinical Chemistry
|
October 21, 2006
Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping
Melissa R Snyder, Jerry A Katzmann, Malinda L Butz, et al.
European Journal of Applied Physiology
|
January 23, 2018
Effect of dietary nitrate supplementation on thermoregulatory and cardiovascular responses to submaximal cycling in the heat
Georgina L Kent, Brian Dawson, Gregory R Cox, et al.
The Journal of Molecular Diagnostics : JMD
|
May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project
Victoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
Page
of 25
Search research articles
Search
Showing results (201-210 of 244) with videos related to
Sort By:
Page
of 25
Clinical Genetics
|
November 8, 2025
Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self-Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery
Kristin Theobald, Amelle Shillington, Farrah Jackson, et al.
BMC Neurology
|
April 23, 2026
Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review
Kochakorn Buasri, Kristin Theobald, Devesh C Pant, et al.
Public Health Reports (Washington, D.C. : 1974)
|
September 7, 2025
The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study
Jonathan H Sussman, Mert Marcel Dagli, Shira L Wald, et al.
Bone
|
May 26, 2018
Mechanical properties of infant bone
Catherine G Ambrose, Miriam Soto Martinez, Xiaohong Bi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 25, 2014
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation
Caressa D Lietman, Ronit Marom, Elda Munivez, et al.
Science Translational Medicine
|
March 15, 2013
Proteoglycan 4 expression protects against the development of osteoarthritis
Merry Z C Ruan, Ayelet Erez, Kilian Guse, et al.
European Journal of Sport Science
|
February 13, 2018
Caffeine use in a Super Rugby game and its relationship to post-game sleep
Ian C Dunican, Charles C Higgins, Maddison J Jones, et al.
Clinical Chemistry
|
October 21, 2006
Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping
Melissa R Snyder, Jerry A Katzmann, Malinda L Butz, et al.
European Journal of Applied Physiology
|
January 23, 2018
Effect of dietary nitrate supplementation on thermoregulatory and cardiovascular responses to submaximal cycling in the heat
Georgina L Kent, Brian Dawson, Gregory R Cox, et al.
The Journal of Molecular Diagnostics : JMD
|
May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project
Victoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
Page
of 25