E-LIB Suche - Ergebnisse für: John Christodoulou

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/..

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/..