Suchergebnisse - %22Case Reports%22

PubPharm (5.658)

1

Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria

enthalten in: The Biochemical journal | 2024

von Al-Sadeq, D. | Conter, C. | Thanassoulas, A. | +6

2

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis

enthalten in: Genes | 2024

von de Oliveira-Sobrinho, R. | Appenzeller, S. | Holanda, I. | +5

3

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

4

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

5

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

6

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

7

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.

8

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

9

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

10

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

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