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BMC Primary Care
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July 29, 2025
Baseline cohort data from HARMONY, a cluster randomised controlled trial of culturally safe domestic violence management in general practice
Angela J Taft, Felicity Young, Kelsey L Hegarty, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Samin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
Plos One
|
September 7, 2012
Expression of human paraoxonase 1 decreases superoxide levels and alters bacterial colonization in the gut of Drosophila melanogaster
Alejandro A Pezzulo, Emma E Hornick, Michael V Rector, et al.
NPJ Genomic Medicine
|
February 26, 2024
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Kristen M Wigby, Deanna Brockman, Gregory Costain, et al.
Annals of Neurology
|
December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
Guy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Human Mutation
|
February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships
Julie P Taylor, Alka Malhotra, Nicole J Burns, et al.
Biology of Reproduction
|
July 12, 2013
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation
Elanor N Wainwright, Joan S Jorgensen, Youngha Kim, et al.
Genes & Development
|
August 9, 2015
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish
Katarzyna Koltowska, Scott Paterson, Neil I Bower, et al.
Neurology
|
February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
Page
of 32
Search research articles
Search
Showing results (231-240 of 318) with videos related to
Sort By:
Page
of 32
BMC Primary Care
|
July 29, 2025
Baseline cohort data from HARMONY, a cluster randomised controlled trial of culturally safe domestic violence management in general practice
Angela J Taft, Felicity Young, Kelsey L Hegarty, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2023
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Samin A Sajan, Carolyn M Brown, Laura Davis-Keppen, et al.
Plos One
|
September 7, 2012
Expression of human paraoxonase 1 decreases superoxide levels and alters bacterial colonization in the gut of Drosophila melanogaster
Alejandro A Pezzulo, Emma E Hornick, Michael V Rector, et al.
NPJ Genomic Medicine
|
February 26, 2024
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Kristen M Wigby, Deanna Brockman, Gregory Costain, et al.
Annals of Neurology
|
December 9, 2015
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
Guy Helman, Ljubica Caldovic, Matthew T Whitehead, et al.
Human Mutation
|
February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships
Julie P Taylor, Alka Malhotra, Nicole J Burns, et al.
Biology of Reproduction
|
July 12, 2013
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation
Elanor N Wainwright, Joan S Jorgensen, Youngha Kim, et al.
Genes & Development
|
August 9, 2015
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish
Katarzyna Koltowska, Scott Paterson, Neil I Bower, et al.
Neurology
|
February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
Page
of 32