E-LIB Suche - Ergebnisse für: Stark, Zornitza

1

Response to Lombardi and Mesnard:

Wu, You ; Jayasinghe, Kushani ; Stark, Zornitza...
Genetics in Medicine. 26 (2024) 1 - p. 100989 , 2024

2

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

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

3

Australian Public Perspectives on Genomic Newborn Screening..:

Lynch, Fiona ; Best, Stephanie ; Gaff, Clara...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 6 , 2024

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

4

Eliciting parental preferences and values for the return of..:

Goranitis, Ilias ; Meng, Yan ; Martyn, Melissa...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

5

P305: Evaluation of the feasibility, diagnostic yield, and ..:

Yan Liang, Nicole Si ; Costain, Gregory ; D'Gama, Alissa...
Genetics in Medicine Open. 2 (2024) - p. 101201 , 2024

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

6

Implementation of reimbursement for genomic testing in Aust..:

Mallett, Andrew J. ; Ingles, Jodie ; Goranitis, Ilias.
Internal Medicine Journal. 54 (2024) 4 - p. 531-534 , 2024

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

7

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/..

8

Australian public perspectives on genomic newborn screening..:

Lynch, Fiona ; Best, Stephanie ; Gaff, Clara...
Human Genomics. 18 (2024) 1 - p. , 2024

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

9

Clinically significant changes in genes and variants associ..:

Robertson, Alan J. ; Tran, Khoa A. ; Bennett, Carmen...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

10

Narrowing the diagnostic gap: Genomes, episignatures, long-..:

Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah...
Genetics in Medicine. 26 (2024) 5 - p. 101076 , 2024

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

11

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

12

Determining priority indicators of utility for genomic test..:

Fehlberg, Zoe ; Goranitis, Ilias ; Mallett, Andrew J...
Genetics in Medicine. 26 (2024) 6 - p. 101116 , 2024

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

13

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/..

14

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/..

15

The cost of proband and trio exome and genome analysis in r..:

Mordaunt, Dylan A. ; Gonzalez, Francisco Santos ; Lunke, Sebastian...
Genetics in Medicine. 26 (2024) 4 - p. 101058 , 2024

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