Biallelic Variants in


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
17 Jan 2022
Historique:
received: 20 12 2021
revised: 11 01 2022
accepted: 13 01 2022
entrez: 21 1 2022
pubmed: 22 1 2022
medline: 10 2 2022
Statut: epublish

Résumé

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (

Identifiants

pubmed: 35055180
pii: ijms23020986
doi: 10.3390/ijms23020986
pmc: PMC8777681
pii:
doi:

Substances chimiques

Mitochondrial Proteins 0
Tumor Suppressor Proteins 0
YueF protein, human 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Nicole J Van Bergen (NJ)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.

Daniella H Hock (DH)

Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.

Lucy Spencer (L)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Sean Massey (S)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Tegan Stait (T)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Zornitza Stark (Z)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Australian Genomics Health Alliance, Parkville, VIC 3052, Australia.

Sebastian Lunke (S)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Department of Pathology, University of Melbourne, Parkville, VIC 3010, Australia.

Ain Roesley (A)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Heidi Peters (H)

Department of Metabolic Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Joy Yaplito Lee (JY)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Department of Metabolic Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Anna Le Fevre (A)

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Oliver Heath (O)

Department of Metabolic Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Cristina Mignone (C)

Medical Imaging Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Joseph Yuan-Mou Yang (JY)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Department of Neurosurgery, Neuroscience Advanced Clinical Imaging Service (NACIS), The Royal Children's Hospital, Parkville, VIC 3052, Australia.
Developmental Imaging, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Neuroscience Research, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Monique M Ryan (MM)

Neurology Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Colleen D'Arcy (C)

Anatomical Pathology Department, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Margot Nash (M)

General Medicine, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Sile Smith (S)

Paediatric Intensive Care Unit, Royal Children's Hospital, Parkville, VIC 3052, Australia.

Nikeisha J Caruana (NJ)

Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.
Institute for Health and Sport (iHeS), Victoria University, Footscray, VIC 3011, Australia.

David R Thorburn (DR)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

David A Stroud (DA)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Department of Biochemistry and Pharmacology and Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC 3010, Australia.

Susan M White (SM)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

John Christodoulou (J)

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC 3052, Australia.
Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
Discipline of Child and Adolescent Health, University of Sydney, Camperdown, NSW 2006, Australia.

Natasha J Brown (NJ)

Department of Paediatrics, University of Melbourne, Parkville, VIC 3010, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

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Classifications MeSH