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Alan Ma

Showing results (21-30 of 40) with videos related to

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Molecular Psychiatry|February 22, 2018
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech developmentElse Eising, Amaia Carrion-Castillo, Arianna Vino, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 18, 2018
Targeted knockout of a chemokine-like gene increases anxiety and fear responsesJung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Molecular Psychiatry|February 22, 2018
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech developmentElse Eising, Amaia Carrion-Castillo, Arianna Vino, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.
European Journal of Human Genetics : EJHG|July 18, 2020
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Edwin P Kirk, Royston Ong, Kirsten Boggs, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 18, 2018
Targeted knockout of a chemokine-like gene increases anxiety and fear responsesJung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, et al.
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Pageof 4