Keywords: سندرم وااردنبرگ; Waardenburg syndrome; PAX3; SOX10; MITF;
مقالات ISI سندرم وااردنبرگ (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.
Keywords: سندرم وااردنبرگ; HL; Hearing loss; NSHL; Nonsyndromic HL; ARHL; Autosomal recessive HL; USH; Usher syndrome; RP; Retinitis pigmentosa; WS; Waardenburg syndrome; Hearing loss; Spanish population, Hispanic and Latino populations; Genetic predisposition; Hearing loss genes;
Keywords: سندرم وااردنبرگ; Cochlear implantation; Computed tomography; Inner ear malformations; Large vestibular aqueduct; Normative/referral cochleovestibular dimensions; Waardenburg syndrome
Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I
Keywords: سندرم وااردنبرگ; WS1; Waardenburg syndrome type 1; PAX3; Paired box gene 3; NCC; Neural crest cells; MITF; The Microphthalmia-Associated Transcription Factor; WS3; Waardenburg syndrome type 3; HRCT; The high-resolution computed tomography; MRI; Magnetic resonance imaging;
Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I
Keywords: سندرم وااردنبرگ; Genetic counseling; Germinal mosaicism; Deafness; Nonsense-mediated mRNA decay; Waardenburg syndrome;
First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; PAX3; Klein-Waardenburg syndrome; Novel variant;
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; Dystopia canthorum; EDNRB; Hearing loss; Hirschsprung's disease;
GT-repeat extension in the IL11 promoter is associated with Hirschsprung's disease (HSCR)
Keywords: سندرم وااردنبرگ; AGT; angiotensinogen; ALDH2; dehydrogenase 2; APC; antigen-presenting cell; CD11c; cluster of differentiation 11c; CI; confidence interval; COPD; chronic obstructive pulmonary disease; CLL; chronic lymphocytic leukemia; DENND3; DENN domain containing prot
Uveopapillitis due to Behcet's disease in a patient with Waardenburg syndrome
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; Behçet's disease; Uveopappilitis;
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; Hirschprung disease; Chronic constipation; SOX10; Iran;
SÃndrome de Waardenburg. Presentación de un caso con glaucoma pigmentario
Keywords: سندرم وااردنبرگ; SÃndrome de Waardenburg; HipocromÃa del iris; SÃndrome de dispersión pigmentaria; Presión intraocular elevada; Glaucoma pigmentario; Waardenburg syndrome; Hypochromia of the iris; Pigment dispersion syndrome; Increased intraocular pressure; Pigmentar
Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; SOX10; Mutation; L141p; Functional analysis;
Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; SOX10; Hearing loss; Hirschsprung disease; PCWH;
Skip segment Hirschsprung's disease in a patient with Shah-Waardenburg Syndrome
Keywords: سندرم وااردنبرگ; Skip segment Hirschsprung's disease; Waardenburg syndrome; Intestinal biopsy;
Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
Keywords: سندرم وااردنبرگ; Genetic counseling; Hearing impairment; Nonsense-mediated mRNA decay; SOX10 mutation; Waardenburg syndrome
PAX transcription factors in neural crest development
Keywords: سندرم وااردنبرگ; BMP; bone morphogenetic protein; CDH syndrome; Craniofacial-Deafness-Hand syndrome; Cdx; gene of the caudal homeobox gene family; E n; mouse embryonic day n (e.g. E16); FGF; fibroblast growth factor; GFAP; glial fibrillary acidic protein; GRN; gene regula
De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II
Keywords: سندرم وااردنبرگ; De novo; SOX10; Waardenburg syndrome
Cochlear implants in genetic deafness
Keywords: سندرم وااردنبرگ; Connexin Cx26/Cx30; Usher syndrome; Mitochondria genes; Waardenburg syndrome; Auditory neuropathy
Serie pediátrica en una campaña oftalmológica en Turkana (Kenia)
Keywords: سندرم وااردنبرگ; Países en vías de desarrollo; Patologías oftalmológicas; Cataratas traumáticas; África; Kenia; Síndrome de WaardenburgDeveloping countries; Ophthalmic pathologies; Traumatic cataracts; Africa; Kenya; Exophthalmos; Waardenburg syndrome
Studies on Pathogenesis of Waardenburg Syndrome Type II and Tietz Syndrome Resulting from MITF Gene Mutations
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; Teitz syndrome; MITF; Mutation; haploinsufficiency
Cochlear implant rehabilitation outcomes in Waardenburg syndrome children
Keywords: سندرم وااردنبرگ; Cochlear implant; Waardenburg syndrome; Speech perception; Speech production; Performance outcomes; Imaging findings
Dysplasia of the cerebellum in Waardenburg syndrome: Outcomes following cochlear implantation
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; Cochlear implant; Cerebellar dysplasia
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome
Keywords: سندرم وااردنبرگ; Waardenburg syndrome; PAX3; MITF; SNAI2; SOX10;
Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation
Keywords: سندرم وااردنبرگ; Hirschsprung's disease; Neuroglia; SOX10; Waardenburg syndrome
Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage
Keywords: سندرم وااردنبرگ; Neural crest; SOX10; Melanocyte; Waardenburg syndrome; Hirschsprung disease; Transcription factor; Endothelin; Genetics; Transgenic mouse