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WebApr 11, 2024 · Background Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa–levodopa, a synthetic form of dopamine typically … WebBMC Medical Genomics (ISSN 1755-8794) is indexed/tracked/covered by PubMed, MEDLINE, BIOSIS, CAS, EMBASE, Scopus, Thomson Reuters (ISI) and Google Scholar. BMC Medical Genomics Journal Impact Factor 2024 Trends . Impact Factor Trend 2000 - 2024. Impact Factor. The impact factor (IF) or journal impact factor (JIF) of an … crystal meth bestandteile
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WebApr 13, 2024 · According to the American College of Medical Genetics and Genomics (ACMG) guidelines and the CNVs diagnostic guidelines, CNVs are rated as 5 levels of risk: pathogenic, possibly pathogenic, benign, probably benign, and of unknown significance [5, 6]. The karyotype of the patient was 46, XX, der (7) t (7;9) (p22; p21) mat (Fig. 1A). WebBMC Genomics is an open access, peer-reviewed journal that considers articles on all aspects of genetics, genomics and proteomics. ... 4.560 - 2-year Impact Factor (2024) 4.931 - 5-year Impact Factor (2024) 1.237 - … WebBMC Genomic Data, previously known as BMC Genetics, is an open-access, peer-reviewed journal that welcomes submissions that describe genomic and genetic research data, report new analyses of genomic data and introduce community databases. We promote open science through the sharing of data. ... 2.759 - 2-year Impact Factor (2024) 3.295 - 5 … crystal meth besonderheiten