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JIMD Reports
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September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.
JIMD Reports
|
February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.
Journal of Genetic Counseling
|
April 10, 2019
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
Sarah Josephi-Taylor, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
JIMD Reports
|
September 13, 2023
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Louisa Adams, Arthavan Selvanathan, Kiera J Batten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"
Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism
|
January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
Lisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
Nutrients
|
February 11, 2023
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, et al.
Genes
|
April 9, 2020
<i>CDH1</i> Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, et al.
Molecular Genetics and Metabolism
|
August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
Sarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 23) with videos related to
Sort By:
Page
of 3
JIMD Reports
|
September 14, 2022
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, et al.
JIMD Reports
|
February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Sophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.
Journal of Genetic Counseling
|
April 10, 2019
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
Sarah Josephi-Taylor, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
JIMD Reports
|
September 13, 2023
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Louisa Adams, Arthavan Selvanathan, Kiera J Batten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 3, 2018
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"
Edwin P Kirk, Kristine Barlow-Stewart, Arthavan Selvanathan, et al.
Molecular Genetics and Metabolism
|
January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
Lisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
Nutrients
|
February 11, 2023
Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, et al.
Genes
|
April 9, 2020
<i>CDH1</i> Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer
Arthavan Selvanathan, Cheng Yee Nixon, Ying Zhu, et al.
Molecular Genetics and Metabolism
|
August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
Sarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
Page
of 3