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NPJ Genomic Medicine
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February 28, 2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Sek Won Kong, In-Hee Lee, Lauren V Collen, et al.
Health Policy (Amsterdam, Netherlands)
|
May 31, 2024
Rural healthcare workforce preparation, response, and work during the COVID-19 pandemic in Australia: Lessons learned from in-depth interviews with rural health service leaders
Vanessa J Watkins, Anna Wong Shee, Michael Field, et al.
Human Molecular Genetics
|
February 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Emily Brookes, Benoit Laurent, Katrin Õunap, et al.
Clinical Genetics
|
January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
Melanie Leffler, Louise Christie, Anna Hackett, et al.
Pacing and Clinical Electrophysiology : PACE
|
July 11, 2017
Injectable loop recorder implantation in an ambulatory setting by advanced practice providers: Analysis of outcomes
Ryan Kipp, Natasha Young, Anne Barnett, et al.
Familial Cancer
|
June 19, 2023
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Mathilda Wilding, Jane Fleming, Katrina Moore, et al.
Movement Disorders Clinical Practice
|
September 16, 2022
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in <i>AFG3L2</i>
Wui-Kwan Wong, Christopher Troedson, Russell C Dale, et al.
The Australian Journal of Rural Health
|
March 10, 2026
Research Capacity and Culture Development in a Small Rural Health Service
Dai Pu, Stephen Gill, Michael Field, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2013
Maternal attitudes to newborn screening for fragile X syndrome
Louise Christie, Tiffany Wotton, Bruce Bennetts, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 17, 2022
Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study
Dahlia F Davidoff, Diana E Benn, Michael Field, et al.
Page
of 14
Search research articles
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Showing results (31-40 of 136) with videos related to
Sort By:
Page
of 14
NPJ Genomic Medicine
|
February 28, 2025
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Sek Won Kong, In-Hee Lee, Lauren V Collen, et al.
Health Policy (Amsterdam, Netherlands)
|
May 31, 2024
Rural healthcare workforce preparation, response, and work during the COVID-19 pandemic in Australia: Lessons learned from in-depth interviews with rural health service leaders
Vanessa J Watkins, Anna Wong Shee, Michael Field, et al.
Human Molecular Genetics
|
February 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Emily Brookes, Benoit Laurent, Katrin Õunap, et al.
Clinical Genetics
|
January 23, 2023
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
Melanie Leffler, Louise Christie, Anna Hackett, et al.
Pacing and Clinical Electrophysiology : PACE
|
July 11, 2017
Injectable loop recorder implantation in an ambulatory setting by advanced practice providers: Analysis of outcomes
Ryan Kipp, Natasha Young, Anne Barnett, et al.
Familial Cancer
|
June 19, 2023
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Mathilda Wilding, Jane Fleming, Katrina Moore, et al.
Movement Disorders Clinical Practice
|
September 16, 2022
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in <i>AFG3L2</i>
Wui-Kwan Wong, Christopher Troedson, Russell C Dale, et al.
The Australian Journal of Rural Health
|
March 10, 2026
Research Capacity and Culture Development in a Small Rural Health Service
Dai Pu, Stephen Gill, Michael Field, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2013
Maternal attitudes to newborn screening for fragile X syndrome
Louise Christie, Tiffany Wotton, Bruce Bennetts, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 17, 2022
Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study
Dahlia F Davidoff, Diana E Benn, Michael Field, et al.
Page
of 14