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John Christodoulou
457
results:
Articles (Online) X
Languages
english (446)
german (1)
Sorted by: Relevance
Sorted by: Year
?
1
Further delineation of short-chain enoyl-CoA hydratase defi..:
Bernhardt, Isaac
;
Frajman, Leah E.
;
Ryder, Bryony
...
Molecular Genetics and Metabolism. 142 (2024) 3 - p. 108508 , 2024
Link:
https://doi.org/10.1016/..
?
2
Consensus reporting guidelines to address gaps in descripti..:
AlMail, Ali
;
Jamjoom, Ahmed
;
Pan, Amy
...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
Prospective cohort study of genomic newborn screening: Baby..:
Lunke, Sebastian
;
Bouffler, Sophie E
;
Downie, Lilian
...
BMJ Open. 14 (2024) 4 - p. e081426 , 2024
Link:
https://doi.org/10.1136/..
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4
Gene selection for genomic newborn screening: Moving toward..:
Downie, Lilian
;
Bouffler, Sophie E.
;
Amor, David J.
...
Genetics in Medicine. 26 (2024) 5 - p. 101077 , 2024
Link:
https://doi.org/10.1016/..
?
5
Identifying potential dietary treatments for inherited meta..:
Martelli, Felipe
;
Lin, Jiayi
;
Mele, Sarah
...
Cell Reports. 43 (2024) 3 - p. 113861 , 2024
Link:
https://doi.org/10.1016/..
?
6
P249: Gaps in the phenotype descriptions of ultra-rare gene..:
AlMail, Ali
;
Jamjoom, Ahmed
;
Pan, Amy
...
Genetics in Medicine Open. 2 (2024) - p. 101145 , 2024
Link:
https://doi.org/10.1016/..
?
7
Reanalysis of genomic data in rare disease: current practic..:
Best, Stephanie
;
Fehlberg, Zoe
;
Richards, Christopher
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
8
P534: Piloting an Australian quality assurance program inte..:
Byrne, Alicia
;
Azmanov, Dimitar
;
Chai, Sze
...
Genetics in Medicine Open. 2 (2024) - p. 101433 , 2024
Link:
https://doi.org/10.1016/..
?
9
Abstract 1596 Damage is Inevitable and Repair is Essential ..:
Linster, Carole
;
Walvekar, Adhish
;
Becker-Kettern, Julia
...
Journal of Biological Chemistry. 300 (2024) 3 - p. 106451 , 2024
Link:
https://doi.org/10.1016/..
?
10
How the Australian Functional Genomics Network (AFGN) contr..:
Scott, Hamish S.
;
Matotek, Ebony
;
Mattiske, Tessa
...
Pathology. 56 (2024) - p. S21-S22 , 2024
Link:
https://doi.org/10.1016/..
?
11
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome ..:
Van Bergen, Nicole J.
;
Gunanayagam, Karen
;
Bournazos, Adam M.
...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3582 , 2023
Link:
https://doi.org/10.3390/..
?
12
Genotypic and phenotypic spectrum of infantile liver failur..:
Vogel, Georg F.
;
Mozer-Glassberg, Yael
;
Landau, Yuval E.
...
Genetics in Medicine. 25 (2023) 6 - p. 100828 , 2023
Link:
https://doi.org/10.1016/..
?
13
Multidisciplinary Management of Rett Syndrome: Twenty Years..:
Vilvarajan, Sandra
;
McDonald, Madeleine
;
Douglas, Lyndal
...
Genes. 14 (2023) 8 - p. 1607 , 2023
Link:
https://doi.org/10.3390/..
?
14
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq i..:
Kiss, Sharmila
;
Christodoulou, John
;
Thorburn, David R.
...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1599-1606 , 2023
Link:
https://doi.org/10.1002/..
?
15
Inherited and acquired errors of type I interferon immunity..:
Bucciol, Giorgia
;
Meyts, Isabelle
;
Abel, Laurent
...
Journal of Allergy and Clinical Immunology. 151 (2023) 4 - p. 832-840 , 2023
Link:
https://doi.org/10.1016/..
1-15