Keywords: AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy
Keywords: Hereditary neuropathy; Autosomal dominant; GNB4; Missense; Charcot-marie-Tooth;
BMPR1A mutations in juvenile polyposis affect cellular localization
Keywords: Bone morphogenetic protein; Juvenile polyposis; Missense
Clinical Utility of KRAS and BRAF Mutations in a Cohort of Patients With Colorectal Neoplasms Submitted for Microsatellite Instability Testing
Keywords: Allele specific; Missense; Mutation; Transversion; Biomarker
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis
Keywords: Wilson's disease; ATP7B; Mutation; Missense; Diagnosis; Prevention
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
Keywords: Autosomal recessive; Hearing impairment; Inbred; Missense; Mutation; Renal failure; WFS1; Wolfram syndrome
Molecular analysis of MECP2 gene in Egyptian patients with Rett syndrome
Keywords: Rett syndrome (RTT); MECP2; Missense; Nonsense; XCI
A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family
Keywords: causative gene; IFAP syndrome; MBTPS2; missense; phenotype; X-linkedHMD, hereditary mucoepithelial dysplasia; IFAP, ichthyosis follicularis, atrichia, and photophobia; KFSD, keratosis follicularis spinulosa decalvans
Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia
Keywords: Btk; XLA; Splicing; Missense; Nonsense; Insertions; Deletions