Keywords: هموزیگوت; Familial hypercholesterolaemia; Undiagnosed; Patients; Families; Children; Prevent; Avoidable; FH; Advocacy; Homozygous; Heterozygous;
مقالات ISI هموزیگوت (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: هموزیگوت; AT; antithrombin; HBS; heparin binding site; DVT; deep venous thrombosis; ETP; Endogenous thrombin potential; AUC; Area under curve; IQR; Interquartile Range; Hz; Heterozygous; Ho; Homozygous; PE; Pulmonary embolism; VTE; Venous thromboembolism; Antithrom
Keywords: هموزیگوت; ASD; autism spectrum disorders; BTBR; BTBR T+Itpr3tf/J mouse strain; cKO; conditional knockout; CNS; central nervous system; CNTNAP2; contactin-associated protein-like 2; DREADD; designer receptors exclusively activated by designer drugs; DSM-5; Diagnosti
Keywords: هموزیگوت; Spinocerebellar ataxia type 6; Homozygous; Gene dosage; Age-of-onset; Neuropathology; Aggregation;
Keywords: هموزیگوت; Autosomal dominant hypercholesterolemia; Double heterozygous; Homozygous; Phenotype; Familial hypercholesterolemia;
Keywords: هموزیگوت; ANOVA; analysis of variance; DA; dopamine; DD; constant darkness; HD; Huntington's disease; HET; heterozygous; HOM; homozygous; HTT; human Huntingtin gene; LD; 12:12 light-dark; MAP; methamphetamine; MASCO; methamphetamine-sensitive circadian oscillator;
Keywords: هموزیگوت; GH transgenic fish; Homozygous; Heterozygous; Amago, Oncorhynchus masou; Muscle; Fatty acid contents;
Keywords: هموزیگوت; parthenogenetic embryonic stem cells (pESCs); heterozygous; homozygous
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease
Keywords: هموزیگوت; Parkinson's disease; Autosomal recessive early-onset Parkinson's disease; PINK1; Homozygous; Mutation;
Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence
Keywords: هموزیگوت; Demyelinating; CMT4C; Autosomal; Homozygous;
Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
Keywords: هموزیگوت; GJB2 gene; Hypoacusia; Gene mutations; Connexins; Homozygous; Gene GJB2; Hipoacusia; Mutaciones génicas; Conexinas; Homocigoto;
Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr
Keywords: هموزیگوت; Genotype-phenotype correlation; Heterozygous; Homozygous; Long QT syndrome; Protein trafficking;
Pharmacogenomics in Anesthesia
Keywords: هموزیگوت; Allele; Homozygous; Heterozygous; Genotype; Phenotype; Pharmacogenomics; Polymorphisms; Single-nucleotide polymorphisms (SNP); Genetics;
Pharmacogenomics in Pain Management
Keywords: هموزیگوت; Allele; Haplotype; Homozygous; Heterozygous; Genotype; Pharmacogenomics; Polymorphisms; Single-nucleotide polymorphisms (SNP); Pain;
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity
Keywords: هموزیگوت; Long QT syndrome; KCNQ1; Consanguinity; Homozygous; Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome;
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Keywords: هموزیگوت; CADASIL; NOTCH3; Homozygous; Heterozygous; Mutation; Stroke;
4-Phenylbutyric acid reduces mutant-TGFBIp levels and ER stress through activation of ERAD pathway in corneal fibroblasts of granular corneal dystrophy type 2
Keywords: هموزیگوت; ER stress; UPR; ERAD; 4-Phenylbutyric acid; TGFBIp; GCD2; Corneal fibroblasts; 4-PBA; Sodium 4-phenylbutyric acid; ATF6; Activating transcription factor 6; BiP; Binding immunoglobulin protein; CHOP; C/EBP homologous protein; ER; Endoplasmic reticulum; ERA
Familial hypercholesterolemia/autosomal dominant hypercholesterolemia: Molecular defects, the LDL-C continuum, and gradients of phenotypic severity
Keywords: هموزیگوت; Autosomal dominant; Autosomal recessive; Familial hypercholesterolemia; Genotype; Heterozygote; Heterozygous; Homozygote; Homozygous; LDL-C level; Lipid-lowering therapy; Monogenic; Phenotype; Statins;
Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles
Keywords: هموزیگوت; AMH; anti-Müllerian hormone; ART; assisted reproductive technology; BMI; body mass index; FMR1; fragile X mental retardation 1; FOR; functional ovarian reserve; FSH; follicle stimulating hormone; FXPOI; fragile X primary ovarian insufficiency; GEE; gener
Genotype-phenotype correlation between the cardiac myosin binding protein C mutation A31P and hypertrophic cardiomyopathy in a cohort of Maine Coon cats: a longitudinal study
Keywords: هموزیگوت; Feline; HCM; Homozygous; Screening; TDI;
Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing
Keywords: هموزیگوت; NMD, nonsense-mediated mRNA decayLong QT syndrome; Sudden death; Homozygous; Heterozygous; Gene-specific ECG patterns
Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy
Keywords: هموزیگوت; Apheresis; Cardiovascular disease; Coronary artery disease; Familial hypercholesterolemia; Heterozygote; Heterozygous; Homozygote; Homozygous; LDL-C level; Maximally tolerated lipid-lowering therapy
JCL Roundtable: Diagnosis of severe familial hypercholesterolemia
Keywords: هموزیگوت; Familial hypercholesterolemia; Homozygous; LDL receptor; LDL-C
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
Keywords: هموزیگوت; A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; Câterminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th
Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment
Keywords: هموزیگوت; Familial hypercholesterolemia; Homozygous; Apolipoprotein B; LDL receptor;
Cutting edge assessment of the impact of autoimmunity on female reproductive success
Keywords: هموزیگوت; FMR1 (fragile X) gene; Autoimmunity; Ovarian reserve; Female infertility; BM15; bone morphogenic protein-15 gene; FMR1; fragile X mental retardation 1; FoxP3; Forkhead Box p3; het; heterozygous; HIGM; immunodeficiency with hyper-IgM; HLA; histocompatibili
Bi-allelic gene targeting in mouse embryonic stem cells
Keywords: هموزیگوت; Mouse; Genetics; Embryonic stem cells; Pluripotent; Gene targeting; Homologous recombination; Homozygous; Mutation; Conditional mutagenesis; Gene function;
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients : Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Keywords: هموزیگوت; Familial hypercholesterolemia; LDL receptor; Apheresis; Cascade screening; Heterozygous; Heterozygote; Homozygous; Homozygote
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Keywords: هموزیگوت; Familial hypercholesterolemia; LDL receptor; Apheresis; Cascade screening; Heterozygous; Heterozygote; Homozygous; Homozygote
SOCS1 and SOCS3 are the main negative modulators of the somatotrophic axis in liver of homozygous GH-transgenic zebrafish (Danio rerio)
Keywords: هموزیگوت; GH-transgenic zebrafish; Homozygous; Somatotrophic axis regulation; Growth; Suppressor of cytokine signaling
Application of simple sequence repeat (SSR) markers for molecular diversity and heterozygosity analysis in maize inbred lines
Keywords: هموزیگوت; Maize; Inbred lines; Molecular diversity; SSR; Homozygous; Heterozygous alleles
Transient receptor potential vanilloid 1, vanilloid 2 and melastatin 8 immunoreactive nerve fibers in human skin from individuals with and without Norrbottnian congenital insensitivity to pain
Keywords: هموزیگوت; calcitonin-gene related peptide; immunohistochemistry; pain; sensory neuron; skin; transient receptor potential channels; CGRP; calcitonin gene-related peptide; CT; cycle threshold; F; female; HET; heterozygous; HO; homozygous; M; male; NF200; neurofilame
Diminished drug transport and augmented radiation sensitivity caused by loss of RLIP76
Keywords: هموزیگوت; RLIP76 (RalBP1); Ral-interacting protein; GSH; glutathione; GS-E; glutathione-electrophile conjugates; DNP-SG; dinitrophenyl S-glutathione; COL; colchicine; DOX; doxorubicin; 4HNE; 4-hydroxynonenal; IOVs; inside-out vesicles; LTC4; leukotriene C4; MEFs;
Prevalence of CCR5Δ32 polymorphism in long-term survivors of heart transplantation
Keywords: هموزیگوت; CCR5; Polymorphism; Homozygous; Heart transplantation; Survival
A null mutation for Fmr1 in female mice: Effects on regional cerebral metabolic rate for glucose and relationship to behavior
Keywords: هموزیگوت; functional activity; rCMRglc; open field activity; passive avoidance; audiogenic seizures; acoustic startle; CMRglc; global cerebral metabolic rate for glucose; DG; deoxyglucose; FMRP; fragile X mental retardation protein; Fmr1; fragile X mental retardati