E-LIB Suche - Ergebnisse für: Kassahn, Karin

1

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/..

2

DCTA triplets: a fascinating trip:

Phan, Jennifer ; DeJong, Lucas ; Kassahn, Karin...
Pathology. 56 (2024) - p. S17-S18 , 2024

Link: https://doi.org/10.1016/..

3

The clinical and genetic features of hereditary pancreatiti..:

Wu, Denghao ; Bampton, Tristan J ; Scott, Hamish S...
Medical Journal of Australia. 216 (2022) 11 - p. 578-582 , 2022

Link: https://doi.org/10.5694/..

4

Whole-Genome Sequencing of SARS-CoV-2 from Quarantine Hotel..:

Leong, Lex E.X. ; Soubrier, Julien ; Turra, Mark...
Emerging Infectious Diseases. 27 (2021) 8 - p. 2219-2221 , 2021

Link: https://doi.org/10.3201/..

5

Review of 12 months of copy number variant calling on a cli..:

Mordaunt, Dylan A. ; Soubrier, Julien ; Gao, Song...
Pathology. 52 (2020) - p. S108 , 2020

Link: https://doi.org/10.1016/..

6

A Workflow to Increase Verification Rate of Chromosomal Str..:

Quek, Kelly ; Nones, Katia ; Patch, Ann-Marie...
BioTechniques. 57 (2014) 1 - p. 31-38 , 2014

Link: https://doi.org/10.2144/..

7

The Multi-Omic Approach to Newborn Screening: Opportunities..:

Ashenden, Alex J. ; Chowdhury, Ayesha ; Anastasi, Lucy T....
International Journal of Neonatal Screening. 10 (2024) 3 - p. 42 , 2024

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

8

Extending the new era of genomic testing into pregnancy man..:

Rogers, Alice ; De Jong, Lucas ; Waters, Wendy...
Australian and New Zealand Journal of Obstetrics and Gynaecology. , 2024

Link: https://doi.org/10.1111/..

9

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/..

10

Author Correction: Genomic autopsy to identify underlying c..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 30 (2023) 1 - p. 302-302 , 2023

Link: https://doi.org/10.1038/..

11

Expanding the phenotype of DNMT3A as a cause a congenital m..:

Ghaoui, Roula ; Ha, Thuong T. ; Kerkhof, Jennifer...
Neuromuscular Disorders. 33 (2023) 6 - p. 484-489 , 2023

Link: https://doi.org/10.1016/..

12

Integrated multi-omics for rapid rare disease diagnosis on ..:

Lunke, Sebastian ; Bouffler, Sophie E. ; Patel, Chirag V....
Nature Medicine. 29 (2023) 7 - p. 1681-1691 , 2023

Link: https://doi.org/10.1038/..

13

Genomic autopsy to identify underlying causes of pregnancy ..:

Byrne, Alicia B. ; Arts, Peer ; Ha, Thuong T....
Nature Medicine. 29 (2023) 1 - p. 180-189 , 2023

Link: https://doi.org/10.1038/..

14

Identification and targeted management of a neurodegenerati..:

Byrne, Alicia B. ; Arts, Peer ; Polyak, Steven W....
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

15

Lost in translation: returning germline genetic results in ..:

Australian Pancreatic Cancer Genome Initiative ; Johns, Amber L. ; McKay, Skye H....
Genome Medicine. 9 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..