E-LIB Suche - Ergebnisse für: Burnett, Leslie

1

Novel tool for improving the quality of genetic pathology p..:

Gruzin, Mia J. ; Taouk, Habib ; Leon R., Ma. Juliana...
Pathology. 56 (2024) - p. S96 , 2024

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

2

95 Patterns and presentations of mosaic variation in monoge..:

Zhang, Jade ; Gray, Paul ; Ting, Yi-Lee...
Clinical Immunology. 262 (2024) - p. 110037 , 2024

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

3

P493: The "Goldilocks" panel: Determining the optimal numbe..:

Burnett, Leslie ; Gruzin, Mia ; Hobbs, Matthew...
Genetics in Medicine Open. 2 (2024) - p. 101392 , 2024

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

4

Genomic Testing in Patients with Kidney Failure of an Unkno..:

Mallawaarachchi, Amali C. ; Fowles, Lindsay ; Wardrop, Louise...
Clinical Journal of the American Society of Nephrology. 19 (2024) 7 - p. 887-897 , 2024

Link: https://doi.org/10.2215/..

5

The 'Goldilocks' panel: determining the optimal number of g..:

Gruzin, Mia J. ; Hobbs, Matthew ; Poll, Sarah...
Pathology. 56 (2024) - p. S96-S97 , 2024

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

6

A multitiered analysis platform for genome sequencing: Desi..:

Austin, Rachel ; Brown, Jaye S. ; Casauria, Sarah...
Genetics in Medicine Open. 2 (2024) - p. 101842 , 2024

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

7

Neuropathological Applications of Microscopy with Ultraviol..:

Lechpammer, Mirna ; Todd, Austin ; Tang, Vivian...
Brain Sciences. 14 (2024) 1 - p. 108 , 2024

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

8

Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Dis..:

Li, Margaret W. Y. ; Burnett, Leslie ; Dai, Pei...
Journal of Clinical Immunology. 44 (2024) 1 - p. , 2024

Link: https://doi.org/10.1007/..

9

Community Genetics screening in a pandemic: solutions for p..:

Terrill, Bronwyn ; McKnight, Lauren ; Pearce, Angela...
European Journal of Human Genetics. 31 (2023) 3 - p. 257-261 , 2023

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

10

Hyper-IgM and acquired C1q complement deficiency in a patie..:

Lee, Adrian Y S ; Dai, Pei ; Burnett, Leslie...
Oxford Medical Case Reports. 2023 (2023) 2 - p. , 2023

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

11

eP338: Efficacy of next generation sequencing data reanalys..:

Dai, Pei ; Honda, Andrew ; Law, Matthew..
Genetics in Medicine. 24 (2022) 3 - p. S211 , 2022

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

12

The Australian Reproductive Genetic Carrier Screening Proje..:

Archibald, Alison D. ; McClaren, Belinda J. ; Caruana, Jade...
Journal of Personalized Medicine. 12 (2022) 11 - p. 1781 , 2022

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

13

Recommendations for next generation sequencing data reanaly..:

Dai, Pei ; Honda, Andrew ; Ewans, Lisa...
Genetics in Medicine. 24 (2022) 8 - p. 1618-1629 , 2022

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

14

Evaluation of two population screening programmes for BRCA1..:

Cousens, Nicole E ; Tiller, Jane ; Meiser, Bettina...
BMJ Open. 11 (2021) 6 - p. e041186 , 2021

Link: https://doi.org/10.1136/..

15

Genomic diagnostics in polycystic kidney disease: an assess..:

Mallawaarachchi, Amali C. ; Lundie, Ben ; Hort, Yvonne...
European Journal of Human Genetics. 29 (2021) 5 - p. 760-770 , 2021

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