Keywords: اتوزومال مغلوب; Irish Traveller; Single gene disorder; Congenital anomaly; Autosomal recessive; Ethnic minority;
مقالات ISI اتوزومال مغلوب (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: اتوزومال مغلوب; 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: اتوزومال مغلوب; Ethnicity; Carrier screening; Autosomal recessive; Preconception;
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; ADHD; Attention Deficit and Hyperactivity Disorder; ACMG; American College of Medical Genetics; AR; Autosomal Recessive; ASD; Autism Spectrum Disorders; aCGH; array Comparative Genomic Hybridization; BP; BreakPoints; CK1; Casein- Kinase 1; CdLS; Cornelia
Keywords: اتوزومال مغلوب; Hereditary spherocytosis; Fetal anemia; Nonimmune hydrops fetalis; Autosomal recessive; α-Spectrin; SPTA1;
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; Familial constrictive pericarditis; Joint deformities; Autosomal recessive; CACP syndrome;
Keywords: اتوزومال مغلوب; Gamete donor; sperm donor; autosomal recessive; autosomal dominant; multifactorial;
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; CGD; Granulocyte function; NADPH; Flow cytometry; Autosomal recessive
Keywords: اتوزومال مغلوب; Inherited metabolic error; autosomal recessive; developmental delays; cholesterol;
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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: اتوزومال مغلوب; ADA; adenosine deaminase; AIRE; autoimmune regulator; AML; acute myeloid leukemia; APECED; autoimmune polyendocrinopathy, candidiasis, and ectodermal dysplasia; APLAID; autoinflammation and PLCγ2-associated antibody deficiency and immune dysregulation; A
Keywords: اتوزومال مغلوب; Ataxia; Inherited; Sporadic; Autosomal dominant; Autosomal recessive; Mitochondrial; Diagnosis; Treatment;
Keywords: اتوزومال مغلوب; AR; autosomal recessive; PDRE; pediatric drug-resistant epilepsy; DRE; drug-resistant epilepsy; EE; epileptic encephalopathy; WES; whole exome sequencing; VUS; variant of unknown significance; AED; antiepileptic drug; IGE; idiopathic generalized epilepsy;
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; Profound syndromic intellectual disability; Autosomal recessive; Consanguineous family; Homozygosity mapping; Whole-genome sequencing; TKT; P4HTM; USP4
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; Metabolic myopathy; Hypotonia; Autosomal recessive; Enzyme replacement therapy; Newborn screening; Lysosomal glycogen storage disease;
Keywords: اتوزومال مغلوب; Sensorineural hearing loss; Autosomal recessive; Maternal inheritance; Different genes; Genetic model;
Keywords: اتوزومال مغلوب; Targeted gene sequencing; Exome sequencing; Autosomal recessive; Neurologic Mendelian disorders; Genetic diagnostic strategy;
Keywords: اتوزومال مغلوب; Chronic granulomatous disease; dihydrorhodamine-1,2,3 assay; CYBB; CYBA; NCF1; NCF2; nicotinamide dinucleotide phosphate reduced oxidase; mean fluorescence intensity; stimulation index; AR; Autosomal recessive; A22R; A22 CGD with residual oxidase activity
Keywords: اتوزومال مغلوب; ATP6V1B1 gene; Renal tubular acidosis; Sensorineural deafness; Moroccan; Autosomal recessive; MutationPCR, polymerase chain reaction; dRTA, distal renal tubular acidosis; SNHL, sensorineural hearing loss
Keywords: اتوزومال مغلوب; Spastic paraplegia 28 (SPG28); Autosomal recessive; DDHD1; Frameshift; Stop gain; Deletion
Keywords: اتوزومال مغلوب; Cancer risks; BLM; ATM; FANCC; autosomal recessive; inherited cancer syndrome; founder mutations
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
Keywords: اتوزومال مغلوب; Congenital hydrocephalus; CCDC88C; Brain malformation; Autosomal recessive; Reproductive medicine; Genetic counselling; Molecular genetics;
Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
Keywords: اتوزومال مغلوب; AR; autosomal recessive; EB; epidermolysis bullosa; GATK; Genome Analysis Toolkit; HM; homozygosity mapping; Mb; mega base pair; NGS; next-generation sequencing; ROH; region of homozygosity; SNP; single nucleotide polymorphism; WES; whole-exome sequencing
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population
Keywords: اتوزومال مغلوب; Maple syrup urine disease; Autosomal recessive; Mutation; BCKDH; BCAAs; MSUD;
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
Keywords: اتوزومال مغلوب; 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: اتوزومال مغلوب; 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;
The Parkinson's disease gene product DJ-1 modulates miR-221 to promote neuronal survival against oxidative stress
Keywords: اتوزومال مغلوب; microRNA (miRNA); Parkinson's disease; Autosomal recessive; PARK7; miR-221; DJ-1; Oxidative stress;
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease
Keywords: اتوزومال مغلوب; NEFL; Charcot-Marie-Tooth disease; Autosomal recessive; Homozygous mutation;
Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease
Keywords: اتوزومال مغلوب; Parkinson's disease; Genetics; Parkin; PARK2; Young onset; Autosomal recessive;
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family
Keywords: اتوزومال مغلوب; Pontocerebellar hypoplasia type 10; Autosomal recessive; Founder mutation; Whole exome sequencing; CLP1;
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Keywords: اتوزومال مغلوب; 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
Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
Keywords: اتوزومال مغلوب; Bone; Dysplasia; Autosomal recessive; Mutation; WISP3; Consanguinity;