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Bruce Bennetts

Showing results (51-60 of 67) with videos related to

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Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Ejhaem|July 18, 2022
A novel cause of <i>DKC1</i>-related bone marrow failure: Partial deletion of the 3' untranslated regionJonathan W Arthur, Hilda A Pickett, Pasquale M Barbaro, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Journal of Clinical Immunology|December 23, 2019
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte PhenotypeElizabeth M Klinken, Paul E Gray, Bethany Pillay, et al.
The Medical Journal of Australia|April 10, 2026
Genomic Newborn Screening: Verdict From an Australian Citizens' JuryYves Saint James Aquino, Joanne Scarfe, Diana Popic, et al.
Brain Communications|February 15, 2021
Gain-of-function <i>GABRB3</i> variants identified in vigabatrin-hypersensitive epileptic encephalopathiesNathan L Absalom, Vivian W Y Liao, Kavitha Kothur, 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 Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Journal of Paediatrics and Child Health|July 5, 2025
Genomic Screening Consortium for Australian Newborns (GenSCAN)Natalie Taylor, Michelle Pirreca, Bruce Bennetts, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Ejhaem|July 18, 2022
A novel cause of <i>DKC1</i>-related bone marrow failure: Partial deletion of the 3' untranslated regionJonathan W Arthur, Hilda A Pickett, Pasquale M Barbaro, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Journal of Clinical Immunology|December 23, 2019
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte PhenotypeElizabeth M Klinken, Paul E Gray, Bethany Pillay, et al.
The Medical Journal of Australia|April 10, 2026
Genomic Newborn Screening: Verdict From an Australian Citizens' JuryYves Saint James Aquino, Joanne Scarfe, Diana Popic, et al.
Brain Communications|February 15, 2021
Gain-of-function <i>GABRB3</i> variants identified in vigabatrin-hypersensitive epileptic encephalopathiesNathan L Absalom, Vivian W Y Liao, Kavitha Kothur, 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 Genomics|August 17, 2024
Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023Amali Mallawaarachchi, Erik Biros, Trudie Harris, et al.
Pageof 7