Keywords: جهش رمان; Hermansky-Pudlak syndrome; HPS4; Platelet granule secretion; Novel mutation; Nonsense mutation;
مقالات ISI جهش رمان (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: جهش رمان; Duchenne muscular dystrophy; Molecular diagnosis; Next Generation Sequencing; Novel mutation;
Keywords: جهش رمان; Autozygosity mapping; CAPN3; Iran; LGMD2A; Novel mutation; STR markers;
Keywords: جهش رمان; Hermansky-Pudlak syndrome; HPS3; Novel mutation; Psychomotoric retardation; Deletion 17q12q21.1;
Keywords: جهش رمان; EEG; electroencephalography; GABA; γ-aminobutyric acid; SSADH; succinic semialdehyde dehydrogenase; Succinic semialdehyde dehydrogenase deficiency; ALDH5A1 gene; 4-Hydroxybutyric aciduria; γ-Aminobutyric acid (GABA); Novel mutation; Prenatal diagnosis;
Keywords: جهش رمان; Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling
Keywords: جهش رمان; Perry syndrome; DCTN1; Novel mutation; MR volumetry; Positron-emission tomography;
Keywords: جهش رمان; LGMD type 2D; alpha sarcoglycan; adhalin gene; novel mutation
Keywords: جهش رمان; Ataxia telangiectasia; ATM; Myoclonus; Novel mutation
Keywords: جهش رمان; ABCD1 gene; Addison disease; Childhood cerebral ALD; Novel mutation; Phenotypic variability; VLCFA; X-linked adrenoleukodystrophy
Keywords: جهش رمان; 46,XY complete gonadal dysgenesis (46,XY CGD); SRY gene; novel mutation; next generation sequencing (NGS)
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss
Keywords: جهش رمان; SMPX; Novel mutation; X-linked hearing loss; DFNX4; Exome sequence;
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct
Keywords: جهش رمان; Hearing loss; Enlarged vestibular aqueduct; SLC26A4; Novel mutation;
SLC52A2 mutations cause SCABD2 phenotype: A second report
Keywords: جهش رمان; Cerebellar ataxias; SCABD2; SLC52A2 gene; Novel mutation; Iran;
A novel SGCE gene mutation in a Moroccan sporadic case with myoclonus-dystonia syndrome
Keywords: جهش رمان; Myoclonus-dystonia syndrome; Epsilon-sarcoglycan gene; Exon 6; Novel mutation;
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings
Keywords: جهش رمان; CDGP; constitutional delay of growth and puberty; CHO; Chinese hamster ovary; E2; estradiol; ER; endoplasmic reticulum; FSH; follicle-stimulating hormone; GnRH; gonadotropin-releasing hormone; HEK; human embryonic kidney; H-P-G axis; hypothalamic-pituit
Glycogen storage disease IIIa: A private homozygous splice site mutation in AGL gene
Keywords: جهش رمان; Glycogen storage disease III (GSD III); Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL); Novel mutation;
GNE myopathy in a Chinese male with a novel homozygous mutation
Keywords: جهش رمان; GNE myopathy; Novel mutation; Chinese patient;
Case ReportIdentification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing
Keywords: جهش رمان; Autosomal dominant; Lacrimo-auriculo-dento-digital (LADD); FGFR3; Novel mutation; Next-generation sequencing;
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct
Keywords: جهش رمان; Hearing loss; Enlarged vestibular aqueduct; SLC26A4; Novel mutation;
Next-generation sequencing identifies three novel missense variants in ILDR1 and MYO6 genes in an Iranian family with hearing loss with review of the literature
Keywords: جهش رمان; ILDR1; MYO6; Novel mutation; Next generation sequencing (NGS);
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients
Keywords: جهش رمان; CIPA; Painless fractures; Charcot arthropathy; NTRK1; Novel mutation;
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family
Keywords: جهش رمان; Novel mutation; DFNA6/14/38; WFS1; Low-frequency hearing loss; Exome sequencing;
Screening mutations in drug-resistant Mycobacterium tuberculosis strains in Yunnan, China
Keywords: جهش رمان; Mycobacterium tuberculosis; Drug resistance genes; Novel mutation; Mutation frequency;
Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma
Keywords: جهش رمان; Hemophilia A carrier; Novel mutation; Prematurity; Female; Psoas hematoma;
A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family
Keywords: جهش رمان; Usher syndrome; Hearing loss; MYO7A; Novel mutation;
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV
Keywords: جهش رمان; GPR98; EDNRB; Usher syndrome type II (USH2); Novel mutation; Waardenburg syndrome type IV(WS4);
Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome
Keywords: جهش رمان; Novel mutation; mtDNA; MT-ND1; LHON syndrome; Cybrids;
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease
Keywords: جهش رمان; Glycogenosis; Population specific; Novel mutation; Rare muscle disorders; Molecular screening; Genomics;
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
Keywords: جهش رمان; ARSB; Arylsulfatase B; HGMD; human gene mutation database; MPS; mucopolysaccharidoses; LSD; lysosomal storage disorders; DS; dermatan sulfate; Molecular analysis; Mucopolysaccharidoses type VI; Novel mutation; Functional characterization; Pathogenic varia
Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: Case report and review of the literature
Keywords: جهش رمان; Eczema; Recurrent infection; Thrombocytopenia; Novel mutation; Wiskott–Aldrich syndrome
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome
Keywords: جهش رمان; Novel mutation; SLC26A4 gene; EVAS; Nonsense; Chinese family; Pathogenicity;
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan
Keywords: جهش رمان; MCAD deficiency; Japanese; Newborn screening; Novel mutation; Allele-specific expression; Enzyme activity
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
Keywords: جهش رمان; CREB binding protein; Novel mutation; Rubinstein-Taybi syndrome; Targeted exome sequencing; Genotype-phenotype correlation
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
Keywords: جهش رمان; Wolfram syndrome; Wolframin; WFS1; Novel mutation; Compound heterozygosity;
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India
Keywords: جهش رمان; Glutaric aciduria; Glutaryl-CoA dehydrogenase; Metabolic disease; Novel mutation; Movement disorders
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions
Keywords: جهش رمان; Myotonia congenita type Becker; CLCN1 gene; First Bulgarian cases; Novel mutation; Endemic regions;
The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)
Keywords: جهش رمان; FMF, familial Mediterranean fever; MEFV, Mediterranean fever gene; SD, standard deviation; wt, wild type; LD, linkage disequilibriumFamilial Mediterranean fever; MEFV; R361T; c.1082G>C; Allelic frequencies; Novel mutation
Genotype–phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients
Keywords: جهش رمان; LCR; ATxTy; HS1; β-Thalassemia; Genotype–phenotype correlation; Novel mutation
Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome
Keywords: جهش رمان; CHD; chromodomain helicase DNA-binding; PGM; personal genome machine; HGMD; Human Gene Mutation Database; PTC; premature termination codon; NMD; nonsense mediated decay; CHARGE syndrome; CHD7; Novel mutation;
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family
Keywords: جهش رمان; Waardenburg syndrome type 1; PAX3; Novel mutation; Iran
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type
Keywords: جهش رمان; Desbuquois dysplasia; Kim type; CANT1; Novel mutation
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family
Keywords: جهش رمان; Lipodystrophy; PTRF; Novel mutation; Saudi Arabia
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene
Keywords: جهش رمان; Cardio-facio-cutaneous syndrome; CFC; BRAF; MEK1; MEK2; KRAS; Genotype–phenotype; Novel mutation
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations
Keywords: جهش رمان; CADASIL; CADASIL scale; NOTCH3 gene; Novel mutation; Mainland China
A Novel Mutation in Lamin A/C Causing Familial Dilated Cardiomyopathy Associated With Sudden Cardiac Death
Keywords: جهش رمان; Dilated cardiomyopathy; lamin A/C; novel mutation; sudden cardiac death
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants
Keywords: جهش رمان; Methylmalonyl CoA mutase; Chromatography; Novel mutation; Egyptian; Single nucleotide polymorphism; Methylmalonic aciduria; Tandem mass spectrometry
A Case of Ehlers-Danlos Syndrome Type VIA With a Novel PLOD1 Gene Mutation
Keywords: جهش رمان; Ehlers-Danlos type VIA; novel mutation; vascular lesion; kyphoscoliosis; connective tissue disorder; hypotonia
A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain
Keywords: جهش رمان; congenital insensitivity to pain; SCN9A; novel mutation; anosmia
A novel insertion-induced frameshift mutation of the androgen receptor gene in a patient with primary amenorrhea
Keywords: جهش رمان; AR, androgen receptor; SRY, sex-determining region Y; PCR, polymerase chain reaction; LBD, ligand-binding domain.AR gene; Primary amenorrhea; Novel mutation