Keywords: مشاوره ژنتیکی; PGD; NF1; fertility; pregnancy; in vitro fertilization; genetic counseling;
مقالات ISI مشاوره ژنتیکی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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: مشاوره ژنتیکی; uniparental disomy; mosaicism; aneuploidy; prenatal diagnosis; genetic testing; genetic counseling
Keywords: مشاوره ژنتیکی; DSD; Ambiguous genitalia; SRY; SOX9; NR5A1; Genetic counseling
Keywords: مشاوره ژنتیکی; Hereditary gastric cancer syndromes; Diagnosis; Management; Genetic counseling; Gastrectomy; Hereditary diffuse gastric cancer; Familial intestinal gastric cancer; Gastric adenocarcinoma and proximal polyposis of the stomach;
Keywords: مشاوره ژنتیکی; Genetic counseling; Predictive genetic testing; Presymptomatic testing protocol; Huntington disease; Alzheimer disease; Frontotemporal degeneration; CADASIL; Prion disease;
Keywords: مشاوره ژنتیکی; Systematic review; Genetic counseling; Medical communication; Discourse analysis; Medical genetics; Physician–patient relations; Qualitative research; Quantitative research; Narrative synthesis
Keywords: مشاوره ژنتیکی; Congenital anomaly; Cardiovascular malformation; Development; Genetics; Genetic counseling; Genetic testing;
Keywords: مشاوره ژنتیکی; Hearing loss; Genetic counseling; Prenatal diagnosis; High-risk families
Keywords: مشاوره ژنتیکی; amniocentesis; array comparative genomic hybridization; cytogenetic analysis; genetic counseling; trisomy 8 mosaicism
Keywords: مشاوره ژنتیکی; Cell-free fetal DNA testing; Ethics of fetal testing; Fetal genetic diagnosis; Genetic counseling; Noninvasive fetal testing; Termination of pregnancy; Whole-genome sequencing
Keywords: مشاوره ژنتیکی; Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling
Keywords: مشاوره ژنتیکی; ARVC; arrhythmogenic right ventricular cardiomyopathy; BrS; Brugada syndrome; HCM; hypertrophic cardiomyopathy; LQTS; long QT syndrome; SCD; sudden cardiac death; VUS; variant of uncertain significance; WES; whole exome sequencing; WGS; whole genome seque
Keywords: مشاوره ژنتیکی; autism spectrum disorder; chromosome microarray; copy number variation; genetic counseling; genetic testing
Keywords: مشاوره ژنتیکی; Alzheimer's disease; Genetic testing; Genetic counseling; Patient–provider communication; Patient-centeredness
Keywords: مشاوره ژنتیکی; Interaction; Genetic counseling; Intersubjectivity; Dialogue; Conditional reasoning; Puisque
Keywords: مشاوره ژنتیکی; Knowledge; Information delivery; Translation/interpreting; Conversation analysis; Genetic counseling; Pediatrics;
Keywords: مشاوره ژنتیکی; Ovarian cancer; Serous; BRCA1; BRCA2; Genetic testing; Genetic counseling;
Keywords: مشاوره ژنتیکی; Endometrial cancer; Lynch syndrome; Microsatellite instability; Immunohistochemistry; Genetic counseling; Genetic testing;
Keywords: مشاوره ژنتیکی; Double trouble; Duchenne muscular dystrophy; Genetic counseling; Ostoegenesis imperfecta;
Keywords: مشاوره ژنتیکی; Genetic counseling; Familial breast cancer; Communication; Nonverbal encouragement; Eye gaze; Verbal dominance; Interactivity; Satisfaction; Needs fulfillment; Anxiety;
Keywords: مشاوره ژنتیکی; Infertility; female infertility; structural equation modeling; diminished ovarian reserve; fragile X; distress; genetic counseling;
Keywords: مشاوره ژنتیکی; Ethics; Autism; Genetic counseling; Genetic testing; Interviews
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source
Keywords: مشاوره ژنتیکی; Genetic disorders; Mutome repository; Pakistan Genetic Mutation Database; Genetic counseling;
Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I
Keywords: مشاوره ژنتیکی; Genetic counseling; Germinal mosaicism; Deafness; Nonsense-mediated mRNA decay; Waardenburg syndrome;
Exome and genome sequencing in reproductive medicine
Keywords: مشاوره ژنتیکی; Exome sequencing; genetic counseling; genetic diagnosis; preconception; prenatal;
Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis
Keywords: مشاوره ژنتیکی; chromosomal microarray analysis; copy number variant; genetic counseling; prenatal diagnosis; variant of uncertain significance; low-penetrance neuro-susceptibility loci;
Clinical Genetic Testing for Familial Hypercholesterolemia
Keywords: مشاوره ژنتیکی; cascade testing; consensus statement; familial hypercholesterolemia; genetic counseling; genetic testing; ACMG; American College of Medical Genetics and Genomics; APOB; apolipoprotein B; CAD; coronary artery disease; DLCNC; Dutch Lipid Clinic Network Diag
¿QUà ES EL ASESORAMIENTO GENÃTICO Y CÃMO REALIZARLO EN ONCOLOGÍA?
Keywords: مشاوره ژنتیکی; Asesoramiento genético; genética del cáncer; factores de alto riesgo; Genetic counseling; cancer genetics; high risk factors;
Ending a Diagnostic Odyssey
Keywords: مشاوره ژنتیکی; Diagnostic odyssey; Whole exome sequencing; Genetic counseling; Variant calling; Categorical model for WES results disclosure; Patient experiences-Case series;
Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study
Keywords: مشاوره ژنتیکی; Alzheimer's disease; Cognitive impairment; Genetic testing; Genetic counseling; Patient-provider communication; Patient-centeredness; Visit companion;
Original articleSpinal muscular atrophy carriers with two SMN1 copies
Keywords: مشاوره ژنتیکی; Spinal muscular atrophy; Carrier testing; Genetic counseling; Intragenic mutation; Gene conversion;
Cáncer hereditario y consejo genético oncológico
Keywords: مشاوره ژنتیکی; Cáncer hereditario; Oncogenes; Genes supresores de tumores; Mutaciones somáticas; Mutaciones germinales; Consejo genético; Hereditary cancer; Oncogenes; Tumor suppressor genes; Somatic mutations; Germinal mutations; Genetic counseling;
Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene
Keywords: مشاوره ژنتیکی; Metatropic dysplasia; Fetal ultrasound; Magnetic resonance imaging; Prenatal osteochondrodysplasia; TRPV4 gene; Genetic counseling;
Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome
Keywords: مشاوره ژنتیکی; array comparative genomic hybridization; genetic counseling; multiplex ligation-dependent probe amplification; prenatal diagnosis; Wolf–Hirschhorn syndrome
Germline BRCA1/2 testing practices in ovarian cancer: Current state and opportunities for new directions
Keywords: مشاوره ژنتیکی; BRCA1/2; Testing; Ovarian cancer; Genetic counseling; Guidelines
NeuropatÃa óptica hereditaria de Leber por mutación G11778A del ADN mitocondrial. Manejo de un caso
Keywords: مشاوره ژنتیکی; NeuropatÃa óptica hereditaria de Leber; Mutación G11778A; Penetrancia incompleta; Consejo genético; Telangiectasias; Leber's hereditary optic neuropathy; G11778A mutation; Incomplete penetrance; Genetic counseling; Telangiectasia;
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A
Keywords: مشاوره ژنتیکی; MADA, mandibuloacral dysplasia type A; MADB, mandibuloacral dysplasia type B; LMNA, lamin A; ZMPSTE24, Zinc Metallopeptidase STE24; PND, Prenatal DiagnosisMandibuloacral dysplasia; LMNA; Genetic testing; Genetic counseling
Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications
Keywords: مشاوره ژنتیکی; Microarray; Cell-free DNA; Microdeletion; Microduplication; Copy number variant; Genetic counseling;
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Keywords: مشاوره ژنتیکی; congenital heart disease; genetic counseling; genetic testing; heart ventricles; mitochondrial myopathies; myocardium; AFD; Anderson-Fabry disease; ARVC; arrhythmogenic right ventricular cardiomyopathy; CHD; congenital heart disease; CMP; cardiomyopathy;
A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism
Keywords: مشاوره ژنتیکی; Autosomal recessive juvenile parkinsonism; Exome sequencing; Parkin; Mutation; Genetic counseling;
Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation
Keywords: مشاوره ژنتیکی; Genetic counseling; Hearing impairment; Nonsense-mediated mRNA decay; SOX10 mutation; Waardenburg syndrome
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
Keywords: مشاوره ژنتیکی; Adrenoleukodystrophy; Newborn screening; Peroxisomal disorders; Adrenal insufficiency; Genetic counseling;
Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients
Keywords: مشاوره ژنتیکی; Retinitis pigmentosa; Rhodopsin mutations; Autosomal recessive retinitis pigmentosa; Autosomal dominant retinitis pigmentosa; Genetic counseling; Electroretinogram
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease
Keywords: مشاوره ژنتیکی; Hypomyelinating leukoencephalopathy; TUBB4A; Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC); Pelizaeus–Merzbacher disease (PMD); Genetic counseling
Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals
Keywords: مشاوره ژنتیکی; Hereditary cancer; Genetic counseling; Practice patterns;
Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001–2010
Keywords: مشاوره ژنتیکی; children with special health care needs; genetic counseling; insurance
Informer la famille : émotions et attitudes du consultant en oncogénétique pour risque familial de cancer sein/ovaire ou côlon
Keywords: مشاوره ژنتیکی; Oncogénétique; Communication; Comportement; Cancer; Consultation génétique; Enquête; Oncogenetics; Communication; Behavior; Cancer; Genetic counseling; Survey;
Gómez-López-Hernández Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?
Keywords: مشاوره ژنتیکی; Gómez-López-Hernández syndrome; rhombencephalosynapsis; alopecia; craniosynostosis; consanguinity; cerebello-trigeminal-dermal dysplasia; genetic counseling;
Quelle place pour l'enquête familiale dans la sclérose latérale amyotrophique ?
Keywords: مشاوره ژنتیکی; SLA familiale; Conseil génétique; Oligogénisme; Familial ALS; Genetic counseling; Oligogeny;
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis
Keywords: مشاوره ژنتیکی; Friedreich ataxia; Point mutation; Disease progression; Hemochromatosis; Genetic counseling;