Keywords: جهش دوباره; Whole-genome sequencing; Schizophrenia; Monozygotic twin; De novo mutation; Combined effect; Susceptibility;
مقالات ISI جهش دوباره (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: جهش دوباره; Tobacco; Cigarette; Sperm; de novo mutation; Aneuploidy; Intellectual disability;
Keywords: جهش دوباره; Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling
Early emergence of de novo EGFR T790M gatekeeper mutations during erlotinib treatment in PC9 non-small cell lung cancer cells
Keywords: جهش دوباره; EGFR (epidermal growth factor receptor); NSCLC (non-small cell lung cancer); Erlotinib; EGFR-Targeted therapy; De novo mutation; Erlotinib-resistance; T790M;
A de novo C19orf12 heterozygous mutation in a patient with MPAN
Keywords: جهش دوباره; NBIA; MPAN; C19orf12; Heterozygous mutation; De novo mutation;
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
Keywords: جهش دوباره; Methylmalonic acidemia; Whole-exome sequencing; De novo mutation; CDKL5; Early-onset epileptic encephalopathy;
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
Keywords: جهش دوباره; Mitochondrial encephalopathy; MT-ATP6 gene; de novo mutation; ATP synthase; Mitochondrial morphometric analysis; Extracellular flux analysis;
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
Keywords: جهش دوباره; Early-onset epileptic encephalopathy (EOEE); GABRA2 gene; de novo mutation; Whole-exome sequencing; EOEE; early onset epileptic encephalopathy; GABA; gamma aminobutyric acid;
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing
Keywords: جهش دوباره; EA; esophageal atresia; TEF; tracheoesophageal fistula; FANCA; Fanconi anemia complementation group A; AEG syndrome; anophthalmia-esophageal-genital syndrome; VACTERL syndrome; vertebral, anal, cardiac, tracheo-esophageal, renal, limb syndrome; CADD score
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
Keywords: جهش دوباره; GRIN1; Early onset encephalopathy; Oculogyric movements; De novo mutation;
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins
Keywords: جهش دوباره; de novo mutation; X-linked; PAK3; Intellectual disability; Macrocephaly;
Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene
Keywords: جهش دوباره; Alzheimer's disease; Early-onset; Presenilin 1 gene; De novo mutation;
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1
Keywords: جهش دوباره; Williams-Beuren syndrome; Deletion; GABRA1; De novo mutation; Epilepsy; Exome;
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Keywords: جهش دوباره; MLPA; QFM-PCR; Gene rearrangement; Allele dosage; De novo mutation; Deletion breakpoint;
Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation
Keywords: جهش دوباره; Lateral temporal lobe epilepsy (LTLE); Autosomal Dominant Lateral Temporal Epilepsy (ADLTE); Idiopathic Partial Epilepsy with Auditory Features (IPEAF); LGI1; De novo Mutation; Auditory auraADTLE, Autosomal Dominant Lateral Temporal Lobe Epilepsy; AED, An
Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes
Keywords: جهش دوباره; MODY2; De novo mutation; Diabetes; GCK gene;
Neocortical neurogenesis and the etiology of autism spectrum disorder
Keywords: جهش دوباره; Autism; Cell cycle; De novo mutation; Genetics; Neurogenesis; Neocortex;
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Keywords: جهش دوباره; Amyotrophic lateral sclerosis (ALS); Early onset; Fused in sarcoma (FUS); De novo mutation; Genetic testing;
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Keywords: جهش دوباره; Hereditary spastic paraplegia; SPG4; SPAST; Somatic mosaicism; Genetic testing; De novo mutation;
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
Keywords: جهش دوباره; Mucolipidosis II/III; Germline mutation; De novo mutation; DNA mutational analysis; Molecular diagnostic
A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case
Keywords: جهش دوباره; Amyotrophic lateral sclerosis; FUS; de novo mutation;
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
Keywords: جهش دوباره; Epilepsy; Sodium channel; De novo mutation; Epileptic encephalopathy;
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor
Keywords: جهش دوباره; Aqueous humor; de novo mutation; Glaucoma; Myocilin;
Properties and rates of germline mutations in humans
Keywords: جهش دوباره; germline mutation rate; de novo mutation; paternal bias; paternal age; genome wide
De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism
Keywords: جهش دوباره; Autism; de novo mutation; epilepsy; intellectual disability; mental retardation; SYNGAP1
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss
Keywords: جهش دوباره; De novo mutation; GJB2; Hearing loss; Nonsyndromic;
A de novo missense mutation of the FUS gene in a “true” sporadic ALS case
Keywords: جهش دوباره; Amyotrophic lateral sclerosis; FUS; de novo mutation;
Short communicationUsing case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases
Keywords: جهش دوباره; Neurodegeneration; De novo mutation; Trio study; Amyotrophic lateral sclerosis; Motor neuron disease; Copy number; Genome-wide microarray;
Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy
Keywords: جهش دوباره; De novo mutation; Hemoglobin H disease; α-Thalassemia
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome
Keywords: جهش دوباره; Mitochondrial disease; Mitochondrial DNA replication; Alpers syndrome; Nonsense-mediated decay; De novo mutation; Haplotype insufficiency
Molecular characterization of three new mutations causing C5 deficiency in two non-related families
Keywords: جهش دوباره; Complement deficiency; C5; de novo mutation; Splicing enhancer; Immunodeficiency; Meningitis
Expansion of the ARX spectrum
Keywords: جهش دوباره; Mental retardation; Seizure disorder; X-linked mental retardation; De novo mutation; Seizures
Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene
Keywords: جهش دوباره; Familial Alzheimer's disease; Presenilin 1 mutations; De novo mutation; Biomodeling
Mutations in Uroplakin IIIA Are a Rare Cause of Renal Hypodysplasia in Humans
Keywords: جهش دوباره; Kidney hypoplasia; dysplasia; uroplakin IIIa; UPIIIA; mutation analysis; de novo mutation; vesicoureteral reflux;