„Mutations“
Suchergebnisse
10.000+ Treffer
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Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
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Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
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The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain
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Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome
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MFN2point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
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Important role of indels in somatic mutations of human cancer genes
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Mutations in epidermal growth factor receptor and K-ras in Chinese patients with colorectal cancer
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Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
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Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis
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Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
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Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations
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A retrospective case-control study of hepatitis C virus infection and oral lichen planus in Japan: association study with mutations in the core and NS5A region of hepatitis C virus
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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
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Effect of mutations to amino acid A301 and F361 in thermostability and catalytic activity of the β-galactosidase from Bacillus subtilis VTCC-DVN-12-01
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Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing
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Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect
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Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
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Prognostic value of CALR vs. JAK2V617F mutations on splenomegaly, leukemic transformation, thrombosis, and overall survival in patients with primary fibrosis: a meta-analysis
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Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation
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Antiretroviral drug resistance mutations in naïve and experienced patients in Shiraz, Iran, 2014