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American Journal of Medical Genetics. Part A
|
September 14, 2023
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant
S Deepak Amalnath, Jothivanan, Junko Oshima, et al.
The Journal of Bone and Joint Surgery. American Volume
|
May 3, 2011
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1
David M Alvarado, Jillian G Buchan, Christina A Gurnett, et al.
The Journal of Bone and Joint Surgery. American Volume
|
September 21, 2012
Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect
Lisa M Kruse, Jillian G Buchan, Christina A Gurnett, et al.
Obstetrics and Gynecology
|
January 11, 2024
Effect of Uterine Leiomyomas on Noninvasive Prenatal Testing Parameters in the First Trimester
Teodora R Kolarova, Ali Alderson, Hayley MacKinnon, et al.
European Journal of Human Genetics : EJHG
|
August 16, 2012
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development
David M Alvarado, Jillian G Buchan, Steven L Frick, et al.
Clinical Orthopaedics and Related Research
|
July 10, 2014
Are copy number variants associated with adolescent idiopathic scoliosis?
Jillian G Buchan, David M Alvarado, Gabe Haller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2025
Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significance
Runjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
October 7, 2014
Kinesin family member 6 (kif6) is necessary for spine development in zebrafish
Jillian G Buchan, Ryan S Gray, John M Gansner, et al.
Human Molecular Genetics
|
July 23, 2013
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis
Kyungsoo Ha, Jillian G Buchan, David M Alvarado, et al.
The Journal of Molecular Diagnostics : JMD
|
January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
Marco L Leung, Jianling Ji, Samuel Baker, et al.
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Showing results (1-10 of 22) with videos related to
Sort By:
Page
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American Journal of Medical Genetics. Part A
|
September 14, 2023
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant
S Deepak Amalnath, Jothivanan, Junko Oshima, et al.
The Journal of Bone and Joint Surgery. American Volume
|
May 3, 2011
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1
David M Alvarado, Jillian G Buchan, Christina A Gurnett, et al.
The Journal of Bone and Joint Surgery. American Volume
|
September 21, 2012
Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect
Lisa M Kruse, Jillian G Buchan, Christina A Gurnett, et al.
Obstetrics and Gynecology
|
January 11, 2024
Effect of Uterine Leiomyomas on Noninvasive Prenatal Testing Parameters in the First Trimester
Teodora R Kolarova, Ali Alderson, Hayley MacKinnon, et al.
European Journal of Human Genetics : EJHG
|
August 16, 2012
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development
David M Alvarado, Jillian G Buchan, Steven L Frick, et al.
Clinical Orthopaedics and Related Research
|
July 10, 2014
Are copy number variants associated with adolescent idiopathic scoliosis?
Jillian G Buchan, David M Alvarado, Gabe Haller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 2025
Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significance
Runjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists
|
October 7, 2014
Kinesin family member 6 (kif6) is necessary for spine development in zebrafish
Jillian G Buchan, Ryan S Gray, John M Gansner, et al.
Human Molecular Genetics
|
July 23, 2013
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis
Kyungsoo Ha, Jillian G Buchan, David M Alvarado, et al.
The Journal of Molecular Diagnostics : JMD
|
January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute
Marco L Leung, Jianling Ji, Samuel Baker, et al.
Page
of 3