دانلود مقالات ISI درباره Omim + ترجمه فارسی

مسائل ایمنی مرتبط با مدیریت رژیم در بیماران مبتلا به بیماری ذخیره سازی گلیکوژن کبدی

Safety issues associated with dietary management in patients with hepatic glycogen storage disease

Keywords: Glycogen storage disease; Diet therapy; Safety; Complications; Hypoglycemia; Safety management; ABGLICO; Associação Brasileira de Glicogenose; AGSD; Association for Glycogen Storage Disease; CGM; Continuous Glucose Monitoring; CNGDF; Continuous nocturna

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

انحرافات کروموزومی با وضوح بالا از سقط خودبخشی ناشی از توالی کامل ژنوم با پوشش کم

High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing

Keywords: CNV; copy number variation; WGS; whole genome sequencing; CMA; chromosomal microarray analysis; NGS; next-generation sequencing; NKD; normal-karyotype database; DGV; database of genomic variants; OMIM; Online Mendelian Inheritance in Man; Trisomy; Miscarr

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

بیماری های متابولیکی استخوانی

Outliers of bone metabolic diseases

Keywords: BMD; bone mineral density; DKK; dickkopf; GWASs; genome-wide association studies; IOF; International Osteoporosis Foundation; IRDiRC; International Rare Diseases Research Consortium; ISDS; International Skeletal Dysplasia Society; OMIM; Online Mendelian I

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2018 سفارش ترجمه

تجزیه و تحلیل میکرواروسای کروموزومی بیماران بلغاری که مبتلا به صرع و ناتوانی ذهنی هستند

Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2018 سفارش ترجمه

تجزیه و تحلیل محاسباتی، پلیمورفیسم تک نوکلئوتونی مخرب جدید را در ناحیه غیرمنتظره ژن کاورولین انسان

Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

Keywords: SNP; Single nuncleotide polymorphism; nsSNP; non-synonymous single nucleotide polymorphism; Cav; caveolin; IGFBP-5; insulin-like growth factor binding protein-5; CKD; chronic kidney diseases; iNOS; inducible nitric oxide synthase; HIF-1α; hypoxia inducib

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2017 سفارش ترجمه

کپی تجزیه و تحلیل تغییرات تعداد بیماران مبتلا به ضعف فکری از شمال غرب اسپانیا

Copy number variation analysis of patients with intellectual disability from North-West Spain

Keywords: Autism spectrum disorder; Chromosome microarray analysis; Diagnostic yield; Global developmental delay; SNP microarray; DSM-5; Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ID; Intellectual Disability; ISCA; International Standards

دانلود رایگان متن کامل مقاله ISI 37 صفحه سال انتشار : 2017 سفارش ترجمه

Catalyst recycling-A survey of recent progress and current status

Keywords: AAS; atomic absorption spectroscopy; AB; ammonia-borane (H3N:BH3); acac; acetylacetonate; BAIB; [bis(acetoxy)iodo]benzene; bdmi; 1-butyl-2,3-dimethylimidazolium; BARF; tetrakis-[3,5-bis(trifluoromethyl)phenyl]borate; BINAM; 1,1′-binaphthyl-2,2′-diam

دانلود رایگان متن کامل مقاله ISI 65 صفحه سال انتشار : 2017 سفارش ترجمه

بیماریهای ابتلا به کمبود ایمنی: رویکردهای ژنتیکی اختلالات مندلیایی ناهمگن را تشریح می کنند

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 89 صفحه سال انتشار : 2017 سفارش ترجمه

بیماران مبتلا به نوع 1 گوچر در اسپانیا: یک مقیاس سنجش وضعیت سلامتی

Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

Keywords: ANOVA; one-way analysis of variance; BMD; bone mineral density; BMI; body mass index; CCL18; chemokine (C-C motif) ligand 18; EC; Enzyme commission number; ERT; enzyme replacement therapy; GBA; glucocerebrosidase; GD; Gaucher disease; DXA; dual energy X-r

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

ویژگی های بالینی و ژنتیکی کوروآرژمی در دوران کودکی

Clinical and Genetic Features of Choroideremia in Childhood

Keywords: ABCA4; ATP-binding cassette, subfamily A, member 4; BAF; blue light autofluorescence; CFP; color fundus photography; CNV; choroidal neovascularization; DC; diopter sphere; DS; diopter cylinder; FAF; fundus autofluorescence; OCT; optical coherence tomograp

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

نانومواد به عنوان صوربرنت برای تجزیه و تحلیل نمونه مواد غذایی

Nanomaterials as sorbents for food sample analysis

Keywords: Carbon nanotubes; Coatings; Food; Graphene; Metal-organic frameworks; Nanomaterials; Nanoparticles; Sorbents; µdSPE; micro-dispersive solid-phase extraction; 17β-E2; 17β-estradiol; AAS; atomic absorption spectroscopy; AMT; 2-amino-5-mercapto-1,3,4-thia

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2016 سفارش ترجمه

بررسی حضور جهش در پروتئین دیستروفین برای پیش بینی تاثیرات نسبی آن در شروع دیستروفی عضلانی دوشن

Analyses of the presence of mutations in Dystrophin protein to predict their relative influences in the onset of Duchenne Muscular Dystrophy

Keywords: Dp; Dystrophin; DMD; Duchenne Muscular Dystrophy; DAPC; Dystrophin Associated Protein Complex; DG; Dystroglycan; MDDGC9; Muscular Dystrophy, Dystroglycanopathy, Type C9; OMIM; Online Mendelian Inheritance in Man; ABD; Actin Binding Domain; SpR; Spectrin R

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

سنتز اکسید دوقلوی منگنز مرتب مزپورس آهن برای حذف آرسنیک از محلول های آبی

Synthesis of ordered mesoporous iron manganese bimetal oxides for arsenic removal from aqueous solutions

Keywords: OMIM; Bimetal oxides; HPLC-ICP-MS; Arsenic removal; Adsorption

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

اختلالات به دست آمده از حمل و نقل و انعقاد بیلیروبین: بینش جدید به مکانیزم های مولکولی و پیامدهای آن

Inherited Disorders of Bilirubin Transport and Conjugation: New Insights Into Molecular Mechanisms and Consequences

Keywords: Crigler-Najjar Syndrome; Hepatic Storage Disease; Glucuronosyl Transferase; Bile Secretion; Kernicterus; ATP; adenosine triphosphate; BSP; bromosulphophthalein; CN; Crigler-Najjar; DJS; Dubin-Johnson syndrome; GS; Gilbert syndrome; ICG; indocyanine

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2014 سفارش ترجمه

استخراج قانون در کشف رابطه بین ژن-بیماری

Rule extraction in gene-disease relationship discovery

Keywords: GO; Gene ontology; DO; Disease ontology; OMIM; Online Mendelian inheritance in man; NLM; National Library of Medicine; IR; Information retrieval; NLP-based; Natural language processing-based; MBSP; Memory-based shallow parser; ILP; Inductive logic program

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

سازگاری اسید پیکومریاک و کافئیک در مایعات یونی و حلال های آلی

Solubilities of p-coumaric and caffeic acid in ionic liquids and organic solvents

Keywords: CADs; cinnamic acid derivatives; ILs; ionic liquids; p-CA; p-coumaric acid; CA; caffeic acid; bmim; 1-butyl-3-methyl imidazolium; omim; 1-octyl-3-methyl imidazolium; PF6; hexafluorophosphate; BF4; tetrafluoroborate; TF2N; bis(trifluoromethanesulfonyl)imid

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Keywords: AMPAR; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor; Arf6; ADP-ribosylation factor 6; ARNO; ADP-ribosylation factor nucleotide site opener; AP-1; Chinese hamster ovary (CHO) cells deficient in the Na+/H+ exchanger 1 isoform; CANX; calnex

دانلود رایگان متن کامل مقاله ISI 58 صفحه سال انتشار : 2019 سفارش ترجمه

Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication

Keywords: AROS; acro-renal-ocular syndrome; BMPs; bone morphogenetic proteins; CT; Computed Tomography; Krd; kidney and renal defects; MRI; magnetic resonance imaging; OD; oculus dexter; OMIM; Online Mendelian Inheritance Man; OS; oculus sinister; PAX2; paired box

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Clinical and submicroscopic findings of two prenatal cases with inv dup del(8p) syndrome

Keywords: ARHGEF10; Rho guanine nucleotide exchange factor 10; Array CGH; Array comparative genomic hybridization; ASD; Atrial septal defect; CCA; Corpus callosum abnormality; CVA; Cerebellar vermis agenesis; dic(8); Dicentric chromosome 8; FISH; Fluorescence in si

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2018 سفارش ترجمه

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Keywords: α; alpha; bp; base pair(s); β; beta; cDNA; DNA complementary to RNA; dNTP; deoxyribonucleoside triphosphate; γ; gamma; GERP; Genomic Evolutionary Rate Profiling; GNPTAB; gene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransfera

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2018 سفارش ترجمه

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Keywords: 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;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Familial Hypertrophic Cardiomyopathy - Identification of cause and risk stratification through exome sequencing

Keywords: HCM; Hypertrophic Cardiomyopathy; NGS; Next Generation Sequencing; OMIM; Online Mendelian Inheritance in Man; EPOCH-H; Epidemiology of Cardiomyopathy-Hypertrophic Cardiomyopathy; LV; Left Ventricular; NYHA; New York Heart Association; ECG; Electrocardiogr

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2018 سفارش ترجمه

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures

Keywords: RTT; Rett syndrome; MECP2; Methyl-CpG-Binding Protein 2; CDKL5; Cyclin Dependent Kinase Like 5; FOXG1; Forkhead Box G1; OMIM; Online Mendelian Inheritance in Man; PRKD1; Protein Kinase D1; NOVA1; Neurooncologic Ventral Antigen 1; c14orf23; Chromosome 14 O

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2018 سفارش ترجمه

S100 proteins in oral squamous cell carcinoma

Keywords: OSCC; oral squamous cell carcinoma; PRISMA; Preferred Reporting Items for Systematic Reviews and Meta-Analyses; PROSPERO; International Prospective Register of Systematic Reviews; PECO; Patient, Exposure, Comparator, Outcome; MEDLINE; Medical Literature A

دانلود رایگان متن کامل مقاله ISI 27 صفحه سال انتشار : 2018 سفارش ترجمه

The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: Immunophenotyping and response to ustekinumab

Keywords: Carvajal syndrome; EKC syndrome; ichthyosis; keratoderma; orphan disease; personalized medicine; pustular psoriasis; SAM syndrome; Th1; Th17; therapeutic repurposing; therapy; ustekinumab; woolly hair; CIE; congenital ichthyosiform erythroderma; DCWHKTA;

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2018 سفارش ترجمه

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema

Keywords: Hereditary angioedema; angiopoietin-1; gene; mutation; multimers; tunica interna endothelial cell kinase 2 receptor; ANGPT1; Angiopoietin-1; ANGPT2; Angiopoietin-2; C1-INH; C1 inhibitor; C1-INH-HAE; Hereditary angioedema caused by C1 inhibitor deficiency;

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2018 سفارش ترجمه

Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases

Keywords: ADHD; Attention-Deficit/Hyperactivity Disorder; CNS; central nervous system; CNVs; copy number variants; GABA; gamma-aminobutyric acid; GO; Gene Ontology; HLA; human leukocyte antigen; IL; interleukin; KEGG; Kyoto Encyclopedia of Genes and Genomes; NMDA;

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2018 سفارش ترجمه

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia

Keywords: CHM; choroideremia; RPE; retinal pigment epithelium; REP-1; Rab escort protein-1; VA; visual acuity; OCT; optical coherence tomography; GGTase; geranylgeranyltransferase; ONL; outer nuclear layer; INL; inner nuclear layer; LCHADD; long-chain 3-hydroxyacyl

دانلود رایگان متن کامل مقاله ISI 47 صفحه سال انتشار : 2018 سفارش ترجمه

Analysis of consequences of non-synonymous SNPs of USP9Y gene in human using bioinformatics tools

Keywords: USP9Y; Ubiquitin-specific Protease 9, Y chromosome; DFFRY; Drosophila Fat Facets-related, Y-Linked; AZFa; Azoospermia factor, sub-region a; SNP; Single Nucleotide Polymorphism; OMIM; Online Mendelian Inheritance in Man; SIFT; Sorting Intolerant from Toler

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations

Keywords: CI; confidence interval; GVFL; glaucomatous visual field loss; IOP; intraocular pressure; JOAG; juvenile open-angle glaucoma; MAF; minor allele frequency; MYOC; myocilin gene; OMIM; Online Mendelian Inheritance in Man; OR; odds ratio; POAG; primary open-a

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats

Keywords: OS; Olmsted syndrome; OMIM; Online Mendelian Inheritance in Man; Ht; WBN/Kob-Ht; WT; wild type; LOX; lipoxygenase; HE; hematoxylin-eosin; LC; liquid chromatography; MS; mass spectrometry; HETrE; hydroxyeicosatrienoic acid; HETE; hydroxyeicosatetraenoic ac

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2017 سفارش ترجمه

Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

Keywords: ACMG; American College of Medical Genetics and Genomics; bp; base pair; CNV; copy number variation; HGMD; Human Gene Mutation Database; NGS; next-generation sequencing; OMIM; Online Mendelian Inheritance in Man; WES; whole-exome sequencing; WGS; whole-gen

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2017 سفارش ترجمه

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency

Keywords: Severe combined immunodeficiency; linker for activation of T cells; immunodeficiency; T-cell receptor signaling; genetic defect; T lymphopenia; GFP; Green fluorescent protein; LAT; Linker for activation of T cells; NK; Natural killer; OMIM; Online Mende

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2017 سفارش ترجمه

Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction

Keywords: AC; abdominal circumference; BPD; biparietal diameter; CNVs; copy number variations; CDT1; chromatin licensing and DNA replication factor 1; CMA; chromosome microarray analysis; CMV; cytomegalovirus; DMRs; differentially methylated regions; ET; embryo tra

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2017 سفارش ترجمه

Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene

Keywords: In silico analysis; Human MTHFD1 gene polymorphism; Single nucleotide polymorphisms; Folate metabolism; MTHFD15; 10-methylenetetrahydrofolate dehydrogenase 1; SIFT; sorting intolerant from tolerant; SNPs&GO; single nucleotide polymorphisms and gene ontolo

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2017 سفارش ترجمه

Alkaptonuria: An example of a “fundamental disease”-A rare disease with important lessons for more common disorders

Keywords: AGE; advanced glycation end products; AKU; alkaptonuria; ECM; extracellular matrix; HDMPs; high density mineralised protrusions; HGD; homogentisate 1,2 dioxygenase; HGA; homogentisic acid; OMIM; online Mendelian inheritance in man; OA; osteoarthritis; PG;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis

Keywords: POMT1; Dystroglycanopathies; Chicken; Walker-Warburg syndrome; CMD; Congenital muscular dystrophy; DG; dystroglycan; DGC; Dystrophin-binding glycoprotein complex; FCMD; Fukuyama's Disease; Gg; Gallus gallus; Hs; Homo sapiens; LGMD; Limb-Girdle Muscular Dy

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

In silico analysis of nsSNPs in human methyl CpG binding protein 2

Keywords: MECP2; methyl CpG binding protein 2; SNP; single nucleotide polymorphism; SIFT; sorting intolerant from tolerant; PolyPhen; phenotype polymorphism; nsSNP; non synonymous single nucleotide polymorphism; OMIM; online Mendelian inheritance in man; MUSTER; mu

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

Keywords: OMIM; Online Mendelian Inheritance in Man; α-GAL A; α-galactosidase A; ERT; enzyme replacement therapy; CFDI; Canadian Fabry Disease Initiative; Gb3 or GL-3; globotriaosylceramide; CTH; ceramide trihexoside; Ga2; galabiosylceramide; CDH; ceramide dihexo

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

Keywords: ACDC; arterial calcification due to deficiency of CD73; ALP; alkaline phosphatase; DEXA; dual-energy X-ray absorptiometry; FGF23; fibroblast growth factor 23; GALNT3; polypeptide N-acetylgalactosaminyltransferase 3; HPO; Human Phenotype Ontology; IgA; imm

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Muir-Torre syndrome (MTS): An update and approach to diagnosis and management

Keywords: immunohistochemistry; keratoacanthoma; Lynch syndrome; microsatellite instability; mismatch repair; Muir-Torre; sebaceous adenoma; sebaceous carcinoma; sebaceous epithelioma; sebokeratoacanthoma; ERF; eukaryotic release factor; HNPCC; hereditary nonpolypo

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

Keywords: Adenosine deaminase 2; chronic inflammation; chronic mucocutaneous candidiasis; CECR1; immunodeficiency; IL17RA; vasculitis; whole-genome analyses; ADA; Adenosine deaminase; APC; Allophycocyanin; Array-CGH; Array-based comparative genomic hybridization; C

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE

Keywords: DMD; Duchenne Muscular Dystrophy; α-DG; Alpha Dystroglycan; DAPC; Dystrophin Associated Protein Complex; MDDGC9; Muscular Dystrophy Dystroglycanopathy type C9; OMIM; Online Mendelian Inheritance in Man; EC; Enzyme Commission number; MDDGB6; Muscular Dyst

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2016 سفارش ترجمه

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Keywords: ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2016 سفارش ترجمه

AGC1/2, the mitochondrial aspartate-glutamate carriers

Keywords: AGC; aspartate/glutamate carrier; CNS; central nervous system; CTLN2; Type II citrullinemia; G3P; glycerol 3 phosphate; GOT; Glutamic-oxaloacetic transaminase; LDH; lactate dehydrogenase; MAS; malate aspartate shuttle; MCF; mitochondrial carrier family; M

دانلود رایگان متن کامل مقاله ISI 57 صفحه سال انتشار : 2016 سفارش ترجمه

Changes in red blood cell membrane structure in G6PD deficiency: An atomic force microscopy study

Keywords: AFM; atomic force microscopy; Ra; arithmetic average roughness; Rq; root-mean-square roughness; BLAST; basic local alignment search tool; OMIM; Online Mendelian Inheritance in Man; CNSHA; severe chronic non-spherocytic hemolytic anemia; G6PD deficiency; A

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

Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings

Keywords: BRLMM; Bayesian Robust Linear Model with Mahalanobis distance classifier; C; cytosine; DNA; desoxyribonucleic acid; GALK1; galactokinase; GALT; galactose-1-phosphate uridyltransferase; GALE; UDP-galactose-4′-epimerase; Mb; megabase; Ng; nanogram; OMIM;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry

Keywords: aCGH; array comparative genomic hybridization; NT; nuchal translucency; t; translocation; MoM; multiples of the median; β-hCG; β-human chorionic gonadotrophin; dn; de novo; PAPP-A; pregnancy-associated plasma protein-A; der; derivative chromosome; dup;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus

Keywords: MSSE; multiple self-healing squamous epithelioma; TGFBR1; transforming growth factor beta-1 receptor; TGF; transforming growth factor; OMIM; Online Mendelian Inheritance in Man; CEPH; centre for human polymorphisms; Self-healing skin cancer; TGFBR1; Digen

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

DR-GAS: A database of functional genetic variants and their phosphorylation states in human DNA repair systems

Keywords: GAS; Haplotype; nsSNP; LD; Phosphorylation; BER; base excision repair; NER; nucleotide excision repair; MMR; mismatch repair; HRR; homologous recombination repair; NHEJ; non-homologous end joining; TLS; trans lesion synthesis; DDS; DNA damage signaling; H

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه