Suchergebnisse - "Humans"

PubPharm (69.742)

51

Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation : A case report

enthalten in: Neurosciences (Riyadh, Saudi Arabia) | 2024

von Alassiri, A. | Alfayea, T. | Aljared, T. | +1

52

Unusual phenotype in 35delG mutation : a case report

enthalten in: Journal of medical case reports | 2024

von Yeral, C. | Seneldir, L. | Karakoc, A. | +2

53

Experience on the long-term use of canakinumab in mevalonate kinase deficiency : A case series

enthalten in: International journal of rheumatic diseases | 2024

von Burlo, F. | Tumminelli, C. | Pastore, S. | +3

54

Localised ALK-positive histiocytosis in lung with EML4::ALK fusion

enthalten in: Pathology | 2024

von Zou, L. | Lu, T. | Li, M. | +4

55

NTRK-rearranged mesenchymal tumour in oesophagus with DOG1 immunohistochemical expression : is it a gastrointestinal stromal tumour?

enthalten in: Pathology | 2024

von Challa, B. | Jones, D. | Kim, A. | +2

56

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma : Advancing genotype-phenotype correlations and literature review

enthalten in: Molecular genetics & genomic medicine | 2024

von Liu, J. | Guo, K. | Zhang, R. | +3

57

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy : a case report and the literature review

enthalten in: Journal of human genetics | 2024

von Zhang, X. | Xu, K. | Kong, J. | +10

58

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

enthalten in: Nature immunology | 2024

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

59

Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes

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

von Ji, W. | Tian, G. | Zhang, X. | +4

60

Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome

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

von Zhang, B. | Xiang, G. | Xiang, S. | +1