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Adam M Bournazos

Showing results (1-10 of 12) with videos related to

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Frontiers in Microbiology|July 15, 2017
Exoproteome Analysis of the Seaweed Pathogen <i>Nautella italica</i> R11 Reveals Temperature-Dependent Regulation of RTX-Like ProteinsMelissa Gardiner, Adam M Bournazos, Claudia Maturana-Martinez, et al.
Nature Reviews. Nephrology|March 12, 2026
'Missing' disease-causing variants in Alport syndromeJudy Savige, Adam M Bournazos, Tomoko Horinouchi, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Acta Neuropathologica Communications|January 18, 2023
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout miceJoe Yasa, Claudia E Reed, Adam M Bournazos, et al.
American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Human Molecular Genetics|July 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and miceBum Jun Kim, Andrés Hernández-García, David L Curtis, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Frontiers in Microbiology|July 15, 2017
Exoproteome Analysis of the Seaweed Pathogen <i>Nautella italica</i> R11 Reveals Temperature-Dependent Regulation of RTX-Like ProteinsMelissa Gardiner, Adam M Bournazos, Claudia Maturana-Martinez, et al.
Nature Reviews. Nephrology|March 12, 2026
'Missing' disease-causing variants in Alport syndromeJudy Savige, Adam M Bournazos, Tomoko Horinouchi, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Acta Neuropathologica Communications|January 18, 2023
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout miceJoe Yasa, Claudia E Reed, Adam M Bournazos, et al.
American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Human Molecular Genetics|July 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and miceBum Jun Kim, Andrés Hernández-García, David L Curtis, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.
Pageof 2