E-LIB Suche - Ergebnisse für: Kassahn, Karin S

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

Hypermutation In Pancreatic Cancer:

Humphris, Jeremy L. ; Patch, Ann-Marie ; Nones, Katia...
Gastroenterology. 152 (2017) 1 - p. 68-74.e2 , 2017

Link: https://doi.org/10.1053/..

11

Complex genetic test requests in SA: An MDT approach:

Kaub, Peter A. ; Kassahn, Karin S. ; Fletcher, Janice M.
Pathology. 48 (2016) - p. S29 , 2016

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

12

Case report of whole genome sequencing in the XY female: id..:

De Sousa, Sunita M. C. ; Kassahn, Karin S. ; McIntyre, Liam C....
BMC Endocrine Disorders. 16 (2016) 1 - p. , 2016

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

13

Whole–genome characterization of chemoresistant ovarian can..:

Patch, Ann-Marie ; Christie, Elizabeth L. ; Etemadmoghadam, Dariush...
Nature. 521 (2015) 7553 - p. 489-494 , 2015

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

14

Whole genomes redefine the mutational landscape of pancreat..:

Australian Pancreatic Cancer Genome Initiative ; Waddell, Nicola ; Pajic, Marina...
Nature. 518 (2015) 7540 - p. 495-501 , 2015

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

15

Erratum: Corrigendum: Whole–genome characterization of chem..:

The Australian Ovarian Cancer Study ; Patch, Ann-Marie ; Christie, Elizabeth L....
Nature. 527 (2015) 7578 - p. 398-398 , 2015

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