دانلود مقالات ISI درباره AR، autosomal recessive + ترجمه فارسی

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Etiological approach in patients with unidentified hearing loss

Keywords: AR، autosomal recessive; Deafness; Diagnosis; Etiology; Genetics; Hearing lossAD, autosomal dominant; AR, autosomal recessive; BOR syndrome, branchio-oto-renal syndrome; CMV, cytomegalovirus; Cx26, connexin 26; ECG, electrocardiography; EVA, enlarged vestibular aqueduct; HL, hear

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

دینامیک میتوکندریایی و بیماری های عصبی محیطی به ارث رسیده است

Mitochondrial dynamics and inherited peripheral nerve diseases

Keywords: AR، autosomal recessive; AD, autosomal dominant; AR, autosomal recessive; CFEOM, congenital fibrosis of extra-ocular muscles; CMAP, compound muscle action potential; CMT, Charcot-Marie-Tooth disease; COX, cytochrome c oxidase; dHMN, distal hereditary motor neuropathy; DI, dominan

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2015 سفارش ترجمه

Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant

Keywords: AR، autosomal recessive; AADC, aromatic amino acid decarboxylase; AR, autosomal recessive; DDC, aromatic amino acid decarboxylase gene; CSF, cerebrospinal fluid; ID, intellectual disability; IQ, intelligence quotient; SNP, single nucleotide polymorphisms; WES, whole exome sequenc

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Keywords: AR، autosomal recessive; Woolly hair; Hypotrichosis; LPAR6; LPA6; LIPHWH, woolly hair; AD, autosomal dominant; AR, autosomal recessive; IRS, inner root sheath; HF, hair follicle; LPA, lysophosphatidic acid; GPCR, G protein–coupled receptor; PCR, polymerase chain reaction; RT, rev

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

Keywords: AR، autosomal recessive; AD, autosomal dominant; ALP, alkaline phosphatase; AR, autosomal recessive; bp, base pair; BTM, bone turnover marker; CRT, creatinine; DPD, deoxypyridinoline; ESH, expansile skeletal hyperphosphatasia; FEO, familial expansile osteolysis; JPD, juvenile Pag

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia

Keywords: AR، autosomal recessive; HSP, Hereditary spastic paraplegia; AD, autosomal dominant; AR, autosomal recessive; SPG, spastic paraplegia gene; MMSE, Mini-Mental State Examination; MRI, magnetic resonance imaging; EEG, electroencephalogram; CSF, cerebrospinal fluid; NGS, next-generat

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Cardiac manifestations of cutaneous disorders

Keywords: AR، autosomal recessive; cardiocutaneous syndromes; dyslipidemias; echocardiogram; H syndrome; PHACE syndrome; pseudoxanthoma elasticum; Ras/mitogen-activated protein kinase pathwayAD, autosomal dominant; AR, autosomal recessive; CFC, cardiofaciocutaneous; ECG, electrocardiogram;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

Keywords: AR، autosomal recessive; AD, autosomal dominant; AR, autosomal recessive; CMAP, compound muscle action potentials; CMT, Charcot–Marie–Tooth; CNS, central nervous system; ER, endoplasmic reticulum; HMN, hereditary motor neuropathy; HMSN, hereditary motor and sensory neuropathy; HN

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2013 سفارش ترجمه

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation

Keywords: AR، autosomal recessive; HL, hearing loss; AR, Autosomal recessive; NSHL, nonsyndromic hearing loss; ARNSHI, Autosomal recessive nonsyndromic hearing impairment; ID, intellectual disability; MR, mental retardation; NS-ARID, non-specific intellectual disability of autosomal recess

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

Kinases and kinase signaling pathways: Potential therapeutic targets in Parkinson's disease

Keywords: AR، autosomal recessive; AD, autosomal dominant; ALP, autophagy-lysosome pathway; AR, autosomal recessive; CCVs, clathrin-coated vesicles; CDK, cyclin-dependent kinase; DA, dopamine; ERK, extracellular signal-regulated kinases; 4E-BP, 4E (eIF4E)-binding protein; GAK, cyclin-G-ass

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2012 سفارش ترجمه

Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders

Keywords: AR، autosomal recessive; AF, amniotic fluid; AR, autosomal recessive; CGH, comparative genomic hybridization; CVS, chorionic villi sample; hg18, human genome assembly 18; IVF, in vitro fertilization; MCC, maternal cell contamination; MDDS, mitochondrial DNA depletion syndrome; PG

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

Keywords: AR، autosomal recessive; AR, autosomal recessive; ATM, ataxia telangiectasia mutated; ATR, ATM and Rad3-related; CNS, central nervous system; EM, electron microscopy; HSP, hereditary spastic paraplegias; SPG, spastic paraplegia gene; TCC, thin corpus callosumSpastic paraplegia; S

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2011 سفارش ترجمه

Hereditary peripheral neuropathies of childhood: An overview for clinicians

Keywords: AR، autosomal recessive; AD, autosomal dominant; AR, autosomal recessive; CMT, Charcot–Marie-Tooth disease; DTR, deep tendon reflexes; EM, electron micrography; EMG, electromyogram; FA, Friedreich’s ataxia; GAN, giant axonal neuropathy; MF, myelinated fibre; MNCS, motor nerve con

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2011 سفارش ترجمه

Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?

Keywords: AR، autosomal recessive; PKD, paroxysmal kinesigenic dyskinesia; AD, autosomal dominant; AR, autosomal recessive; LOD, logarithm of odds; NPL, nonparametric linkage; PD, paroxysmal dyskinesias; PKC, paroxysmal kinesigenic choreoathetosis; PDC, paroxysmal dystonic choreoathetosis;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

Keywords: AR، autosomal recessive; MSMD; genetic heterogeneity; IL-12B; IL-12RB1; IFNGR1; IFNGR2; STAT1; NEMO; Middle EastAD, Autosomal dominant; AR, Autosomal recessive; EM, Environmental mycobacteria; GAF, γ-Activating factor; HSCT, Hematopoietic stem cell transplantation; IFNGR1, IFN-γ

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

Keywords: AR، autosomal recessive; AFP, alpha-fetoprotein; ALS4, amyotrophic lateral sclerosis type 4; Ab, Antibody; AOA2, Ataxia-Ocular Apraxia 2; AD, autosomal dominant; AR, autosomal recessive; EYFP, enhanced YFP expression vector; ESTs, expressed sequence tags; FCS, fetal calf serum; I

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2006 سفارش ترجمه