Suchergebnisse - "Kassahn, Karin"

PubPharm (89)

1

Unravelling Facets of MECOM-Associated Syndrome : Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

enthalten in: Blood advances | 2024

von Venugopal, P. | Arts, P. | Fox, L. | +48

2

Extending the new era of genomic testing into pregnancy management : A proposed model for Australian prenatal services

enthalten in: The Australian & New Zealand journal of obstetrics & gynaecology | 2024

von Rogers, A. | De Jong, L. | Waters, W. | +19

3

Author Correction : Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

enthalten in: Nature medicine | 2024

von Byrne, A. | Arts, P. | Ha, T. | +129

ErratumFor: Nat Med. 2023 Jan;29(1):180-189. - PMID 36658419

4

Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1

enthalten in: JAMA neurology | 2023

von Ghaoui, R. | Curtis, S. | Kassahn, K.

5

Integrated multi-omics for rapid rare disease diagnosis on a national scale

enthalten in: Nature medicine | 2023

von Lunke, S. | Bouffler, S. | Patel, C. | +41

6

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

enthalten in: Neuromuscular disorders : NMD | 2023

von Ghaoui, R. | Ha, T. | Kerkhof, J. | +11

7

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

enthalten in: Nature medicine | 2023

von Byrne, A. | Arts, P. | Ha, T. | +129

CommentIn: Nat Med. 2023 Jan;29(1):41-42. - PMID 36670297

8

A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence

enthalten in: ResearchSquare.com | 2023

von Scott, H. | Byrne, A. | Arts, P. | +28

9

Shariant platform : Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

enthalten in: American journal of human genetics | 2022

von Tudini, E. | Andrews, J. | Lawrence, D. | +101

10

The clinical and genetic features of hereditary pancreatitis in South Australia

enthalten in: The Medical journal of Australia | 2022

von Wu, D. | Bampton, T. | Scott, H. | +13

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