Keywords: اتسومال غالب; Polycystic kidney; autosomal dominant; kidney diseases; cystic; ADPKD; pain; patient-reported outcome (PRO); patient-centered outcomes; quality of life (QoL); PRO instrument; disease burden;
مقالات ISI اتسومال غالب (ترجمه نشده)
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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: اتسومال غالب; Primary immunodeficiency; Hematologic malignancy; Lymphoma; Leukemia; Hodgkin; AD; Autosomal dominant; ADA; Adenosine deaminase; AML; Acute myeloid leukemia; AR; Autosomal recessive; CID; combined immunodeficiency; HL; Hodgkin lymphoma; HLH; Hemophagocyti
Keywords: اتسومال غالب; Spinocerebellar ataxia 2; SCA2; Non-ataxic symptoms; Polyglutamine repeat; CAG, Trinucleotide repeat disorder; AAO; Age at onset; AD; Autosomal dominant; CAG; Cytosine-Adenine-Guanine; CI; Confidence interval; DNA; Deoxyribonucleic acid; ICARS; Internatio
Keywords: اتسومال غالب; AD; autosomal dominant; AR; autosomal recessive; CDD; craniodiaphyseal dysplasia; LRP4; low-density lipoprotein receptor-related protein 4; LRP4; gene encoding LRP4; LRP5; low-density lipoprotein receptor-related protein 5; LRP6; low-density lipoprotein r
Keywords: اتسومال غالب; Autosomal dominant; Tubulointerstitial; Renin; Uromodulin; Mucin-1;
Keywords: اتسومال غالب; Signal transduction and activator of transcription 1; alanine scanning; chronic mucocutaneous candidiasis; Mendelian susceptibility to mycobacterial disease; reference database; AD; Autosomal dominant; AR; Autosomal recessive; CADD; Combined annotation-de
Keywords: اتسومال غالب; 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
Keywords: اتسومال غالب; RBC; red blood cell; NGS; next-generation sequencing; HS; hereditary spherocytosis; SNV; single nucleotide variants; HE; hereditary elliptocytosis; ANK1; ankyrin 1; SPTB; spectrin, beta, erythrocytic; SPTA1; spectrin alpha, erythrocytic 1; SLC4A1; solute
Keywords: اتسومال غالب; NGS; next-generation sequencing; WGS; whole-genome sequencing; WES; whole-exome sequencing; AD; Autosomal Dominant; AR; Autosomal Recessive; XLR; X-Linked Recessive; OI; osteogenesis imperfecta; OSMED; oto-spondylo-mega-epiphyseal dysplasia; SADDAN; sever
Keywords: اتسومال غالب; ACES; Aravind Comprehensive Eye Survey; ACG; Angle Closure Glaucoma; AD; Autosomal Dominant; APEDS; Andhra Pradesh Eye Disease Study; AR; Autosomal Recessive; ATOH7; Atonal Homolog 7; BACES; British Asian Community Eye Study; CARD10; Caspase Recruitment D
Keywords: اتسومال غالب; Primary immunodeficiency disease; whole-exome sequencing; copy number variants; AD; Autosomal dominant; ALPS; Autoimmune lymphoproliferative syndrome; AR; Autosomal recessive; BCM; Baylor College of Medicine; BHCMG; Baylor-Hopkins Center for Mendelian Gen
Keywords: اتسومال غالب; Gamete donor; sperm donor; autosomal recessive; autosomal dominant; multifactorial;
Keywords: اتسومال غالب; HF; hair follicle; AD; autosomal dominant; AR; autosomal recessive; KIF; keratin intermediate filament; ch; chromosome; HIM; herix initiation motif; HTM; herix termination motif; ER; endoplasmic reticulum; WH; woolly hair; PPK; palmoplantar keratoderma; I
Keywords: اتسومال غالب; GOF; Gain-of-function; STAT1; Signal transducer and activator of transcription 1; CMCD; Chronic mucocutaneous candidiasis disease; CCD; Coiled-coiled domain; DBD; DNA-binding domain; LOF; Loss-of-function; AR; Autosomal recessive; AD; Autosomal dominant
Keywords: اتسومال غالب; Anophthalmia; Microphthalmia; ALDH1A3; FOXE3; VSX2; Consanguinity; Autosomal recessive; Whole exome sequencing; A/M; Anophthalmia/Microphthalmia; AR; Autosomal Recessive; AD; Autosomal Dominant; PCR; Polymerase Chain Reaction; SIFT; Sorting Intolerant Fro
Keywords: اتسومال غالب; Hearing; Balance; Cochlea; Vestibule; RNA-Seq; Transcriptome; NMD; nonsense mediated decay; lincRNAs; long intervening non-coding RNAs; FPKM; Fragments per kilobase of exon per million reads mapped; NATs; Natural antisense transcripts; ncRNAs; non-coding
Keywords: اتسومال غالب; amyloid precursor protein; autosomal dominant; familial Alzheimer's disease; presenilin-1; presenilin-2
Keywords: اتسومال غالب; Immunology; primary immunodeficiency; whole-exome sequencing; hematopoietic stem cell transplantation; common variable immunodeficiency; severe combined immunodeficiency; hyper-IgE syndrome; AD; Autosomal dominant; AR; Autosomal recessive; BCL10; B-cell l
Keywords: اتسومال غالب; ACG; angle closure glaucoma; AD; autosomal dominant; ADRB1; beta-adrenergic receptors 1; ADRB2; beta-adrenergic receptors 2; AGTR2; angiotensin II receptor, type 2; ANP; atrial natriuretic polypeptide; APOE; apolipoprotein E; AR; autosomal recessive; ASB1
Keywords: اتسومال غالب; AD; autosomal dominant; AR; autosomal recessive; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram/electrocardiography/electrocardiographic; FDR; first-degree relative; LQTS; long QT syndrome; NGS;
Keywords: اتسومال غالب; CPVT; Cardiac calsequestrin; Heterozygous; Autosomal dominant;
Keywords: اتسومال غالب; Fiebre mediterránea familiar; Taponamiento cardiaco; Autosómico dominanteMediterranean fever; Cardiac tamponade; Autosomal dominant
Keywords: اتسومال غالب; ALP; alkaline phosphatase; ER; endoplasmic reticulum; Endo H; endo-β-N-acetylglucosaminidase H; DOX; doxycycline; GPI; glycosylphosphatidylinositol; HPP; hypophosphatasia; PI-PLC; phosphatidylinositol-specific phospholipase C; PNGase F; peptide-N-glycosi
Keywords: اتسومال غالب; AD; autosomal dominant; AD-HIES; autosomal dominant hyper-immunoglobulin E syndrome; AR; autosomal recessive; BMD; bone mineral density; CMC; chronic mucocutaneous candidiasis; DOCK8; dedicator of cytokinesis 8; EBV; Epstein-Barr virus; FOXP3; forkhea
Keywords: اتسومال غالب; Primary combined immunodeficiency; hyper-IgE syndrome; autosomal recessive hyper-IgE syndrome; dedicator of cytokinesis 8; signal transducer and activator of transcription 3; Molluscum contagiosum; AD; Autosomal dominant; AR; Autosomal recessive; CID; Com
Keywords: اتسومال غالب; CMT; Charcot Marie Tooth disease; AD; Autosomal dominant; AR; Autosomal recessive; MNCV; Motor nerve conduction velocity; CMAP; Compound muscle action potential; PMP22; Peripheral myelin protein 22; HMSN; Hereditary motor sensory neuropathy; LITAF; lipopo
Keywords: اتسومال غالب; Ataxia; Inherited; Sporadic; Autosomal dominant; Autosomal recessive; Mitochondrial; Diagnosis; Treatment;
Keywords: اتسومال غالب; Ataxia; Neuropathy; Autosomal dominant; Orthostatic hypotension; Hypometric saccades
Keywords: اتسومال غالب; Restrictive cardiomyopathy; Heart failure; Titin; Autosomal dominant; Diastolic;
Keywords: اتسومال غالب; Parkinsonism; Familial; Frontotemporal dementia; Genetics; Autosomal dominant; Mutation;
Keywords: اتسومال غالب; ACP33; Maspardin gene; AD; Autosomal dominant; AP4B1; Adaptor-related protein complex 4, epsilon 1 subunit gene; AP4M1; Adaptor-related protein complex 4, Mu 1 subunit gene; AP4E1; Adaptor-related protein complex 4, Epsilon 1 subunit gene; AP4S1; Adaptor-
Keywords: اتسومال غالب; Genotype versus phenotype expressions; immunology; immunoreconstitution; intravenous immunoglobulin; primary immunodeficiencies; newborn screening for severe combined immunodeficiency; whole-genome sequencing; AD; Autosomal dominant; ADA; Adenosine deamin
Keywords: اتسومال غالب; AAA; ATPases associated with diverse cellular activities; AD; autosomal dominant; AEPs; auditory evoked potentials; AP; adaptor protein complex; AR; autosomal recessive; BiP; binding immunoglobulin protein; BMP; bone morphogenetic protein; CMT; Charcot-
Keywords: اتسومال غالب; Autosomal dominant; Congenital nuclear cataract; MIP gene mutation; Next-generation sequencing
Keywords: اتسومال غالب; PRRT2; Paroxysmal kinesigenic dyskinesia; Epilepsy; Dystonia; Autosomal dominant
Keywords: اتسومال غالب; acute porphyria; abdominal pain; haem metabolism; Panhematin; autosomal dominant
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
Keywords: اتسومال غالب; AD; autosomal dominant; IF; intermediate filament; WH; woolly hair;
Neurinoma del acústico bilateral como diagnóstico de neurofibromatosis tipo 2: reporte de caso clÃnico
Keywords: اتسومال غالب; Neurofibromatosis 2; Neurilemoma; Autosómico dominante; Neurofibromatosis 2; Neurilemmoma; Autosomal dominant;
Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report
Keywords: اتسومال غالب; 4; acrocephalosyndactyly; autosomal dominant; craniosynostosis; foot deformity; foot surgery; genetic deformity; toe fusion;
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling
Keywords: اتسومال غالب; WFS1; All-frequency sensorineural hearing loss; Prenatal diagnosis; Autosomal dominant; WES;
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
Keywords: اتسومال غالب; AD; autosomal dominant; AJ; Ashkenazi Jewish; AR; autosomal recessive; BCVA; best-corrected visual acuity; BSP; bone spicule; EOG; electro-oculography; ERG; electroretinography; FA; fluorescein angiography; FAF; fundus autofluorescence; FC; finger countin
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Keywords: اتسومال غالب; AD; autosomal dominant; AOA1; ataxia with oculomotor apraxia type 1; AR; autosomal recessive; ARCA; autosomal recessive cerebellar ataxia; ATM; ataxia talengiectasia; FA; Friedreich ataxia; GBA2; b-glucosidase 2; HSPs; hereditary spastic paraplegias; NGS;
Presymptomatic atrophy in autosomal dominant Alzheimer's disease: AÂ serial magnetic resonance imaging study
Keywords: اتسومال غالب; Longitudinal; Atrophy; Alzheimer's disease; Dementia; Autosomal dominant; Neuroimaging; MRI; Boundary Shift Integral; Nonlinear modeling; Change-point;
Hereditary Alpha Tryptasemia
Keywords: اتسومال غالب; Mast cell activation; Hypertryptasemia; Autosomal dominant; Genotyping;
Genomic form of rhodopsin DNA nanoparticles rescued autosomal dominant Retinitis pigmentosa in the P23H knock-in mouse model
Keywords: اتسومال غالب; Genomic DNA; Retinitis pigmentosa; Autosomal dominant; DNA nanoparticle; P23H knock-in;
Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls
Keywords: اتسومال غالب; Leucine-rich repeat kinase; Autosomal dominant; Parkinson's disease; Motor features; Non-motor features; Cognition;
Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot
Keywords: اتسومال غالب; ACTG1; Actin gamma 1; DFNA; Autosomal dominant; NSHL; Non-syndromic hearing loss; ADSNHL; Autosomal dominant sensorineural non syndromic hearing loss; NGS; Next-generation sequencing; ABR; Auditory brainstem response; PTA; Pure-tone audiometry; MAF; Minor
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)
Keywords: اتسومال غالب; Autosomal dominant; Bisphosphonates; Cemento-ossifying fibroma; Cherubism; Diaphyseal sclerosis; Fracture; Psammomatoid bodies;
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Keywords: اتسومال غالب; Cyclic GMP; Genotype-phenotype correlation; Guanylate cyclase; GUCY2D; Mutation; Photoreceptor; Retinal diseases; AAV; adeno-associated virus; ad; autosomal dominant; ar; autosomal recessive; BSP; bone spicule-like pigmentation; CCD; cyclase catalytic dom
The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population
Keywords: اتسومال غالب; Hearing loss; Autosomal dominant; GJB3; c.538C>T;