دانلود مقالات ISI درباره Nbs + ترجمه فارسی

Stereoselective synthesis of modified cysteines

Keywords: Alloc; allyloxycarbonyl; Ar; aryl; Bn; benzyl; Cbz; benzyloxycarbonyl; Cbz-OSu; benzyloxycarbonylsuccinimide; NBS; N-bromosuccinimide; Boc; tert-butoxycarbonyl; m-CPBA; m-chloroperbenzoic acid; DABCO; 1,4-diazabicyclo[2.2.2]octane; DBU; 1,8-diazabicyclo[5

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2017 سفارش ترجمه

Synergistic analytical preconcentration with ionic liquid-nanomaterial hybrids

Keywords: Ionic liquids; Hybrid nanomaterials; Functionalization; Sample preparation; Microextraction; Preconcentration; DI-SPME; direct-immersion-solid-phase microextraction; DLLME; dispersive liquid-liquid microextraction; DLS; dynamic light scattering; D-M-SPE

دانلود رایگان متن کامل مقاله ISI 41 صفحه سال انتشار : 2017 سفارش ترجمه

Electrospinning: A versatile technique for making of 1D growth of nanostructured nanofibers and its applications: An experimental approach

Keywords: AM; Air mass; CNFs; Carbon nanofibers; CNTs; Carbon nanotubes; CH3NH3PbI3; Methylammonium lead iodide; CR; Congo red; DCM; Dichloromethane; Di water; Distilled water; DMF; Dimethylformamide; DSC; Differential scanning calorimetry; DSSCs; Dye sensitized so

دانلود رایگان متن کامل مقاله ISI 86 صفحه سال انتشار : 2017 سفارش ترجمه

Nucleotide dependence of the dimerization of ATP binding cassette nucleotide binding domains

Keywords: ABC protein; Tryptophan fluorescence; Dimer; Motor domain; ATPase; ABC; ATP-binding cassette; MJ, single-Cys; single-Trp MJ0796 mutant G14C/C53G/C128I/G174W; MJI; hydrolysis deficient MJ mutant E171Q; NBD; nucleotide-binding domain; NBS; nucleotide-bindin

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

Screening of MCAD deficiency in Japan: 16 years' experience of enzymatic and genetic evaluation

Keywords: MCAD; medium-chain acyl-CoA dehydrogenase; FAOD; fatty acid oxidation disorder; MS/MS; tandem mass spectrometry; NBS; newborn screening; DBS; dried blood specimen; MCAD deficiency; Tandem mass spectrometry; Newborn screening; Japanese; Non-Caucasian; Phen

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

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Keywords: NBS; Newborn screening; VLCAD; Very long-chain acyl-CoA dehydrogenase;

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

A novel EIS field effect structures coated with TESUD-PPy-PVC-dibromoaza[7]helicene matrix for potassium ions detection

Keywords: PPy; Polypyrrole; TESUD; 11-(Triethoxysilyl)undecanal; CAMs; Contact angle measurements; EIS; Electrochemical impedance spectroscopy; Py; Pyrrole; AFM; Atomic force microscopy; KTpClPB; Potassium tetrakis(4-chlorophenyl)borate; DOS; Dioctyl sebacate; NBS;

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

Can One Predict Resolution of Neonatal Hyperthyrotropinemia?

Keywords: congenital hypothyroidism; neonatal hyperthyrotropinemia; perinatal stress; BW; Birth weight; GA; Gestational age; NBS; Newborn screening; NICU; Neonatal intensive care unit; ROP; Retinopathy of prematurity; T4; Thyroxine; TSH; Thyrotropin;

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

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Keywords: VLCAD; very long chain acyl-CoA dehydrogenase; NBS; newborn screening; MCT; medium chain triglycerides; IBEM-IS; Inborn Errors of Metabolism Information System; RUSP; Recommended Uniform Screening Panel; CK; creatine kinase; HELLP syndrome; hemolysis, ele

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

New telmisartan-derived PPARγ agonists: Impact of the 3D-binding mode on the pharmacological profile

Keywords: PPARγ; Transactivation; Cytotoxicity; Binding mode; Molecular modeling; Amax; maximum intrinsic activity; BPO; benzoyl peroxide; DMEM; Dulbecco's modified Eagle medium; LBD; ligand binding domaine; mp; melting point; NBS; N-bromosuccinimide; PPAR; peroxi

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2016 سفارش ترجمه

Opening the toolbox of alternative sampling strategies in clinical routine: A key-role for (LC-)MS/MS

Keywords: LC-MS/MS; Liquid chromatography; Tandem mass spectrometry; Alternative sampling strategies; Alternative matrices; Dried blood spots; Oral fluid; Clinical laboratory; CDC; center for disease control and prevention; CDT; carbohydrate-deficient transferrin;

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2016 سفارش ترجمه

Cancer TARGETases: DSB repair as a pharmacological target

Keywords: DSB repair; Genome instability; Cancer; Kinases; Helicases; Nucleases; ALT; alternative telomere lengthening; AML; acute myeloid leukemia; A-T; ataxia-telangiectasia; ATM; ataxia-telangiectasia mutated; ATP; adenosine triphosphate; ATR; ataxia-tel

دانلود رایگان متن کامل مقاله ISI 110 صفحه سال انتشار : 2016 سفارش ترجمه

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

Keywords: CG; classic galactosemia; GALT; galactose 1-phosphate uridylyltransferase; NBS; newborn screening; qRT-PCR; quantitative reverse transcription polymerase chain reaction; Gal-1P; galactose-1-phosphate; GALE; UDP-galactose 4'-epimerase; GALK; galactokinase;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Bulbar impairment score predicts noninvasive volume-cycled ventilation failure during an acute lower respiratory tract infection in ALS

Keywords: AB; acute bronchitis; ALS; amyotrophic lateral sclerosis; ALSFRS-R; revised amyotrophic lateral sclerosis functional rating scale; APACHE II; Acute Physiology and Chronic Health Evaluation; ARF; acute respiratory failure; AUC; area under the curve; CAP; c

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

Synthetic study of peptide aldehyde via acetal/thioacetal transformation: application for Lys/Ser-containing peptides

Keywords: Peptide aldehyde; Acetal; Thioacetal; Cysteine protease inhibitor; SPPS; solid phase peptide synthesis; NBS; N-bromo succinimide; SARS; severe acute respiratory syndrome; DMF; dimethyl formamide; DIPEA; diisopropylethylamine; DIPC; diisopropylcarbodiimide

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Brief CommunicationSuccessful newborn screening for SCID in the Navajo Nation

Keywords: DBS; dried blood spots; dsDNA; double strand DNA; GVHD; graft vs. host disease; HCT; hematopoietic cell transplant; NBS; newborn screening; SCID; severe combined immunodeficiency; SCID-A; Artemis deficient SCID; TCL; T cell lymphopenia; TCR; T cell recept

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Direct difunctionalization of alkenes with sulfinic acids and NBS leading to β-bromo sulfones

Keywords: β-Bromo sulfones; Alkenes; Sulfinic acids; NBS; Difunctionalization;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

Keywords: VLCAD; Inborn error of metabolism; Fatty acid oxidation; Newborn screening; ACADVL; VLCADD; NBS; V283A; V243A

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

Quality control mechanisms in cellular and systemic DNA damage responses

Keywords: DNA damage; Ageing; Ubiquitin proteasome system; DNA repair; Progeroid syndromes; Genome stability; ARF; adenosine diphosphate ribosylation factor; AT; ataxia telangiectasia; ATM; ataxia telangiectasia mutated; ATP; adenosine triphosphate; BER; base excis

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

Monitoring liver macrophages using nanobodies targeting Vsig4: Concanavalin A induced acute hepatitis as paradigm

Keywords: ConA; concanavalin A; CRIg; complement receptor of the immunoglobulin superfamily; IHC; immunofluorescence histochemistry; KCs; Kupffer cells; MMR; macrophage mannose receptor; Nbs; nanobodies; SPECT; single-photon-emission computed tomography; Vsig4; V-s

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

Synthesis and biological evaluation of pyridinone analogues as novel potent HIV-1 NNRTIs

Keywords: HIV; human immunodeficiency virus; NNRTIs; non-nucleoside reverse transcriptase inhibitors; SARs; structure and activity relationships; HAART; highly active antiretroviral therapy; RT; reverse transcriptase; NVP; nevirapine; DLV; delavirdine; EFV; efavire

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis

Keywords: 660W; Illumina 660W-Quad BeadChip; CF; Cystic fibrosis; CFTR; Cystic fibrosis transmembrane conductance regulator; IRT; Immunoreactive trypsinogen; NBS; Newborn screening/screened; Omni5; Illumina Omni5-Quad BeadChip; QC; Quality control; SNP; Single nucl

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

Rice OsiSAP7 negatively regulates ABA stress signalling and imparts sensitivity to water-deficit stress in Arabidopsis

Keywords: COP1; constitutive photomorphogenic 1; DCFDA; 2′,7′-dichlorofluorescein diacetate; DREB; dehydration-responsive element binding protein; DRIP1/2; DREB-interacting protein1/2; HOS1; high expression of osmotically responsive 1; ICE1; inducer of CBF expr

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2015 سفارش ترجمه

Disruption of SUMO-targeted ubiquitin ligases Slx5-Slx8/RNF4 alters RecQ-like helicase Sgs1/BLM localization in yeast and human cells

Keywords: HU; hydroxyurea; Y2H; yeast-2-hybrid; DSB; double-strand break; HR; homologous recombination; STUbL; SUMO-targeted ubiquitin ligase; SUMO; small ubiquitin-like modifier; YFP; yellow fluorescent protein; CFP; cyan fluorescent protein; RFP; red fluorescent

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2015 سفارش ترجمه

Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI

Keywords: ARSB; arylsulfatase B; DBS; dried blood spots on newborn screening cards; GALNS; N-acetylgalactosamine-6-sulfatase; 4MU; 4-methyl-umbelliferyl; 4MU-Gal-6-S; β-4MU glycoside of galactose-6-sulfate; 4MU-GalNAc-4/6-S; β-4MU glycoside of N-acetylgalactosami

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2015 سفارش ترجمه

Stereoselective synthesis of 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors

Keywords: HMG-CoA reductase inhibitors; Statins; Chiral β-hydroxy-δ-lactone; Chiral 3,5-syn-diol acid; Asymmetric synthesis; Ac; acetyl; Ar; aryl; Bn; benzyl; Bz; benzoyl; n-Bu; butyl; t-Bu; tert-butyl; CDI; 1,1′-carbonyldiimidazole; BINOL; 1,1′-bi-2-naphthol

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2015 سفارش ترجمه

Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI)

Keywords: ARSB; arylsulfatase B isoform; AU; arbitrary units; DBS; dried blood spot; EA; enzyme activity; LSD; lysosomal storage disorder; MPS VI; mucopolysaccharidosis type VI; NBS; newborn screening; β-MU; 4-methylumbelliferone; β-MUS; 4-methylumbelliferone sul

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2015 سفارش ترجمه

PCC characteristics at rest in 10-year memory decliners

Keywords: Resting-state fMRI; NBS; Graph theory; Aging; Memory decline; PCC;

دانلود رایگان متن کامل مقاله ISI 40 صفحه سال انتشار : 2015 سفارش ترجمه

An update on the stereoselective synthesis of α-aminophosphonic acids and derivatives

Keywords: α-Aminophosphonic acids; α-Aminophosphonates; Stereoselective synthesis; Three-component reaction; ABSA; 4-acetamidobenzenesulfonyl azide; Abu; aminobutyric acid; Ac; acetyl; ACE; angiotensin-converting enzyme; Ala; alanine; Ar; aryl; BINAP; 2,2′-bis(

دانلود رایگان متن کامل مقاله ISI 43 صفحه سال انتشار : 2015 سفارش ترجمه

Preliminary research on 1-(4-bromo-2-nitroimidazol-1-yl)-3-[18F]fluoropropan-2-ol as a novel brain hypoxia PET tracer in a rodent model of stroke

Keywords: 1-(4-Bromo-2-nitroimidazol-1-yl)-3-[18F]fluoropropan-2-ol; PET imaging; Hypoxia; Fluorine-18; Stroke; Nitroimidazole; BBB; blood-brain barrier; CBF; cerebral blood flow; CT; computed tomography; DHP; 3,4-dihydro-2H-pyran; FDG; 2-fluoro-2-deoxy-d-glucose

دانلود رایگان متن کامل مقاله ISI 92 صفحه سال انتشار : 2015 سفارش ترجمه

Synthesis of structurally diverse diarylketones through the diarylmethyl sp3 CH oxidation

Keywords: CH oxidation; Diarylketones; Diarylmethanes; NBS;

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

NBS-mediated sequential one-pot synthesis of multifunctionalized thiazoles and thiophenes from 1,3-dicarbonyl compounds and mercaptonitrile salts

Keywords: Multifunctionalized thiazoles and thiophenes; Sequential one-pot synthesis; Thorpe-Ziegler cyclization; 1,3-Dicarbonyl compounds; NBS;

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

Direct conversion of methylarenes into dithiocarbamates, thioamides and benzyl esters

Keywords: Dithiocarbamates; Thioamides; Esters; NBS; TBHP;

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

ATP binding to two sites is necessary for dimerization of nucleotide-binding domains of ABC proteins

Keywords: 8-azido-ATP-biotin; 8-N3ATP-2′,3′-biotin-long chain-hydrazide; ABC; ATP-binding cassette; LRET; luminescence (or lanthanide-based) resonance energy transfer; MJ; single-Cys mutant G14C based on MJ-CL; MJ-CL; Cys-less single-Trp mutant MJ0796-C53G-C128

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

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry

Keywords: ACP; acid phosphatase; CRIM; cross-reactive immunologic material; DBS; dried blood spot; ECG; electrocardiogram; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; IRB/EC; Institutional Review Board or Ethics Committee; MRI; magnetic resonance

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

Design, synthesis and biological evaluation of new 5-nitro benzimidazole derivatives as AT1 antagonists with anti-hypertension activities

Keywords: RAS; rennin-angiotensin system; AII; angiotensin II; ARBs; angiotensin II receptor blockers; FDA; US Food and Drug Administration; DMAP; 4-(dimethylamino)pyridine; NMR; nuclear magnetic resonance; HRMS; high-resolution mass spectrometry; ESI; electrospr

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

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

Keywords: CF; cystic fibrosis; CFNBS; cystic fibrosis newborn screening; DBS; dried blot spot; FS; failsafe strategy; IRT; immunoreactive trypsinogen; NBS; newborn screening; MI; meconium ileus; PAP; pancreatitis associated protein; PS; pancreatic sufficient; PI; p

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

Tracing the origin and evolution of plant TIR-encoding genes

Keywords: CC; coiled-coil; HNL; α/β-hydrolase-NBS-LRR; LRR; leucine-rich repeat; NBS; nucleotide binding site; NLR; nucleotide-binding leucine-rich repeat; Pkinase; protein kinase; PNL; protein-kinase-NBS-LRR; TIR; Toll-interleukin-1 receptor; TIR-encoding genes;

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

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program

Keywords: DBS; dried blood spot; ESI/MS/MS; electrospray ionization-tandem mass spectrometry; LC/MS/MS; liquid chromatography-tandem mass spectrometry; FAOD; fatty acid oxidation disorder; FPR; false positive rate; IEM; Inborn Errors of Metabolism; NBS; newborn scr

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

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs

Keywords: SUAC; Succinylacetone; NBS; Newborn screening; DBS; Dried blood spot; TYR I; Tyrosinemia type I; MS/MS; Tandem mass spectrometry; HHS; US Department of Health and Human Services; S(D)ACHDNC; US Health and Human Services Secretary's (Discretionary) Advisor

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

Accelerating CFD-DEM simulation of processes with wide particle size distributions

Keywords: CFD; Computational fluid dynamics; DEM; Discrete element model; NBS; No binary search; Computational fluid dynamics; Discrete element model; Search algorithm; Increased time-step;

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

Molecular characterization of NBS encoding resistance genes and induction analysis of a putative candidate gene linked to Fusarium basal rot resistance in Allium sativum

Keywords: Fusarium; Garlic; NBS; Resistance gene analogs; Relative transcript expressionFBR, Fusarium basal rot; FOC, Fusarium oxysporum f. sp. cepae; NBS, Nucleotide binding site

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

Exploring the interaction between small RNAs and R genes during Brachypodium response to Fusarium culmorum infection

Keywords: ABA; Abscisic Acid; ANOVA; Analysis of Variance; bp; base pairs; BLAST; Basic Local Alignment Search Tool; cDNA; DNA complementary to RNA; CDS; Coding Sequence; DCL; Dicer-Like (nuclease); DNA; deoxyribonucleic acid; DNase; Deoxyribonuclease; ds; double-s

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

Implications of GDP accounting for factor income share in China

Keywords: D33; E01; E02; E25; GDP accounting; Factor income share; Labor share in income; Income component; NBS;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2014 سفارش ترجمه

A mild oxidation of deactivated naphthalenes and anthracenes to corresponding para-quinones by N-bromosuccinimide

Keywords: Oxidations; NBS; Anthraquinone; Naphthoquinone;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2014 سفارش ترجمه

Ligation-based assembly for constructing mouse synthetic scFv libraries by chain shuffling with in vivo-amplified VH and VL fragments

Keywords: LYS; hen egg lysozyme; BSA; bovine serum albumin; S.A.; streptavidin; EMCS; N-(6-maleimidocaproyloxy) succinimide; ABTS; 2,2′-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid); CDR; complementarity determining region; HCDR; VH-CDR; Fw; framework region

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2014 سفارش ترجمه

Synthesis and biological evaluation of novel 2-amino-3-aroyl-4-neopentyl-5-substituted thiophene derivatives as allosteric enhancers of the A1 adenosine receptor

Keywords: GPCRs; G protein-coupled receptors; [3H]DPCPX; [3H]1,3-dipropyl-8-cyclopentyl-xanthine; [3H]MRE-3008F20; [3H]5-N-(4-methoxyphenylcarbamoyl)amino-8-propyl-2-(2-furyl)pyrazolo[4,3-e]-1,2,4-triazolo[1,5-c]pyrimidine; [3H]CCPA; [3H]2-chloro-N6-cyclopentyladen

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2014 سفارش ترجمه

The electrochemical behavior of cerium(III/IV) complexes: Thermodynamics, kinetics and applications in synthesis

Keywords: acac; acetylacetonate; BINOL; 1,1′-bi-2-napthol; Bu; butyl; BQ; benzoquinone; CAN; ceric ammonium nitrate; CV; cyclic voltammetry/voltammagram; CMPO; n-octyl(phenyl)-N,N-diisobutylcarbamoylmethylphosphine oxide; Cp; cyclopentadienyl; dap; diazaporphyrin

دانلود رایگان متن کامل مقاله ISI 51 صفحه سال انتشار : 2014 سفارش ترجمه

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS

Keywords: PDE; Pyridoxine-dependent epilepsy; α-AASA; α-Aminoadipic semialdehyde antiquitin; DBS; Dried blood spots; NBS; Newborn screening; P6C; Piperideine-6-carboxylate; Pyridoxine-dependent epilepsy (PDE); α-Aminoadipic semialdehyde (α-AASA); Piperideine-6-

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

Keywords: AT; Austrian/Austria; CE; Central Europe; CF; Cystic Fibrosis; CZ; Czech Republic/Czech; CFTR; cystic fibrosis transmembrane conductance regulator gene; DE; German/Germany; HU; Hungarian/Hungary; MLPA; multiplex ligation-dependent probe amplification; NBS

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