Suchergebnisse - %22Case Reports%22

PubPharm (5.715)

1

Expanding the phenotypic spectrum for CDK8-related disease : A case report

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

von Comeau, D. | Belliveau, J. | Bouhamdani, N. | +1

2

Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A

enthalten in: European journal of neurology | 2024

von Tomaselli, P. | Blake, J. | Polke, J. | +4

3

A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10

enthalten in: QJM : monthly journal of the Association of Physicians | 2024

von Jia, Y. | Liu, W. | Wang, J. | +3

4

Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2024

von Yao, L. | Li, M. | Liu, L. | +4

5

A case report of percutaneous intramyocardial septal radiofrequency ablation in an adult with re-obstruction after Morrow procedure

enthalten in: European heart journal. Case reports | 2024

von Wang, H. | Lei, C. | Liu, L.

6

Failure of artemether-lumefantrine therapy in travellers returning to Belgium with Plasmodium falciparum malaria : an observational case series with genomic analysis

enthalten in: Journal of travel medicine | 2024

von Pierreux, J. | Bottieau, E. | Florence, E. | +12

7

Fabry disease in W162C mutation : a case report of two patients and a review of literature

enthalten in: BMC neurology | 2024

von Furia, A. | Ditaranto, R. | Biagini, E. | +5

8

Oncocytoma-Like Angiomyolipoma of the Kidney : A Closer Look into the Clinicopathologic, Immunohistochemical, and Molecular Characteristics of a Rare Entity with Review of the Literature

enthalten in: International journal of surgical pathology | 2024

von Doytcheva, K. | Storozuk, T. | Tjota, M. | +1

9

Cushing syndrome and tertiary adrenal insufficiency from prolonged concomitant use of budesonide and posaconazole

enthalten in: Internal medicine journal | 2024

von Grigg, A.

10

Acute Lymphoblastic Leukemia With Near-haploid Karyotype and Philadelphia Chromosome

enthalten in: Anticancer research | 2024

von Panagopoulos, I. | Andersen, K. | Wik, H. | +1

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[572]