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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 Dystrophies
Benjamin M Nash, Alan Ma, Gladys Ho, et al.
Journal of Paediatrics and Child Health
|
April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine
Alan Ma, Timothy P Newing, Rosie O'Shea, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
|
April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
Rose White, Gladys Ho, Swetlana Schmidt, et al.
Orphanet Journal of Rare Diseases
|
September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
The Journal of Experimental Medicine
|
July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.
Frontiers in Genetics
|
July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Glenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Human Mutation
|
June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yield
Alan 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 disorders
Alan Ma, Saira Yousoof, John R Grigg, et al.
Journal of Personalized Medicine
|
December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
Alison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
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 Dystrophies
Benjamin M Nash, Alan Ma, Gladys Ho, et al.
Journal of Paediatrics and Child Health
|
April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine
Alan Ma, Timothy P Newing, Rosie O'Shea, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
|
April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
Rose White, Gladys Ho, Swetlana Schmidt, et al.
Orphanet Journal of Rare Diseases
|
September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
The Journal of Experimental Medicine
|
July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain development
Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.
Frontiers in Genetics
|
July 11, 2022
Expanding the <i>HPSE2</i> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Glenda M Beaman, Filipa M Lopes, Aybike Hofmann, et al.
Human Mutation
|
June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yield
Alan 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 disorders
Alan Ma, Saira Yousoof, John R Grigg, et al.
Journal of Personalized Medicine
|
December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
Alison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Page
of 5