E-LIB Suche - Ergebnisse für: John Christodoulou

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

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

Multi-omics identifies large mitoribosomal subunit instabil..:

Amarasekera, Sumudu S C ; Hock, Daniella H ; Lake, Nicole J...
Human Molecular Genetics. 32 (2023) 15 - p. 2441-2454 , 2023

Link: https://doi.org/10.1093/..

12

Morphology-Dependent Interactions between α-Synuclein Monom..:

Pálmadóttir, Tinna ; Waudby, Christopher A. ; Bernfur, Katja...
International Journal of Molecular Sciences. 24 (2023) 6 - p. 5191 , 2023

Link: https://doi.org/10.3390/..

13

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/..

14

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/..

15

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man t..:

Post, Merel A. ; de Wit, Isis ; Zijlstra, Fokje S. M....
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 313-325 , 2023

Link: https://doi.org/10.1002/..