Suchergebnisse - "Humans"

PubPharm (56.021)

1

Alexander disease with a novel GFAP insertion-deletion mutation mimicking progressive supranuclear palsy

enthalten in: Clinical neurology and neurosurgery | 2024

von Shiina, A. | Ishikawa, D. | Ishizawa, K. | +5

2

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

enthalten in: Clinical genetics | 2024

von Malbos, M. | Wakeling, E. | Gautier, T. | +26

3

A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings

enthalten in: Clinical immunology (Orlando, Fla.) | 2024

von Fusaro, M. | Coustal, C. | Barnabei, L. | +8

4

Successful treatment of severe passenger lymphocyte syndrome with efgartigimod synergy

enthalten in: Transfusion | 2024

von Chase, R. | Koop, A. | Shaikh, M. | +4

5

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

6

CHD8-related disorders redefined : an expanding spectrum of dystonic phenotypes

enthalten in: Journal of neurology | 2024

von Sorrentino, U. | Boesch, S. | Doummar, D. | +7

7

Non-small cell lung carcinoma with focal coexpression of thyroid transcription factor-1 and Δ Np63/p40 : A case report

enthalten in: Thoracic cancer | 2024

von Terada, K. | Menju, T. | Date, H. | +2

8

Central retinal artery occlusion after intravitreal brolucizumab injection for treatment-naïve neovascular age-related macular degeneration; a case report

enthalten in: BMC ophthalmology | 2024

von Hong, S. | Kim, H.

9

Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant

enthalten in: American journal of medical genetics. Part A | 2024

von Cepress, M. | Grund, E. | Leng, T. | +4

10

Combining forces for good : chimeric antigen receptor T-cells and Bruton tyrosine kinase inhibitors in mantle cell lymphoma with central nervous system involvement

enthalten in: Leukemia & lymphoma | 2024

von Minson, A. | Dickinson, M.

ErratumIn: Leuk Lymphoma. 2024 Apr 12;:1. - PMID 38606813

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