Suchergebnisse - "Case Reports"

PubPharm (11.141)

1

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

enthalten in: Nature immunology | 2024

von Oda, H. | Manthiram, K. | Chavan, P. | +59

2

Matrix metalloproteinase-9 deficiency confers resilience in fibrodysplasia ossificans progressiva in a man and mice

enthalten in: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 2024

von Lounev, V. | Groppe, J. | Brewer, N. | +10

3

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35

enthalten in: The Journal of biological chemistry | 2024

von Aguila, A. | Salah, S. | Kulasekaran, G. | +6

4

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency

enthalten in: Journal of clinical immunology | 2024

von Hicks, E. | Hall, G. | Hershfield, M. | +5

5

Blood-Based Multiomics-Guided Detection of a Precancerous Pancreatic Tumor

enthalten in: Omics : a journal of integrative biology | 2024

von Anwar, M. | Keshteli, A. | Yang, H. | +7

6

Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation

enthalten in: eLife | 2024

von Kandoi, S. | Martinez, C. | Chen, K. | +5

UpdateOf: medRxiv. 2023 Nov 06;:. - PMID 36909455

7

Severe acute myositis and myocarditis on initiation of 6-weekly pembrolizumab post-COVID-19 mRNA vaccination

enthalten in: Journal for immunotherapy of cancer | 2024

von Watson, R. | Ye, W. | Taylor, C. | +16

8

Clinical and cellular phenotypes resulting from a founder mutation in IL10RB

enthalten in: Clinical and experimental immunology | 2024

von Mao, Z. | Betti, M. | Cedeno, M. | +5

9

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

enthalten in: Genes | 2024

von Cordova, I. | Blesson, A. | Savatt, J. | +6

10

Novel factors potentially initiating acute antibody-mediated rejection in pig kidney xenografts despite an efficient immunosuppressive regimen

enthalten in: Xenotransplantation | 2024

von Kinoshita, K. | Maenaka, A. | Rosales, I. | +9

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