Keywords: مرتبط با X; Fabry disease; cryptogenic stroke; X-linked; genetic screening;
مقالات ISI مرتبط با X (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: مرتبط با X; AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat
Keywords: مرتبط با X; angiokeratoma; stroke; heart disease; genetic disease; sphingolipids; X-linked;
Keywords: مرتبط با X; PDH complex deficiency; Epilepsy; Metabolic disorder; Ketogenic diet; Antiepileptic drugs; X-linked; PDHA1;
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population
Keywords: مرتبط با X; AD; autosomal dominant; AJ; Ashkenazi Jewish; AR; autosomal recessive; BCVA; best-corrected visual acuity; BSP; bone spicule; EOG; electro-oculography; ERG; electroretinography; FA; fluorescein angiography; FAF; fundus autofluorescence; FC; finger countin
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Keywords: مرتبط با X; AD; autosomal dominant; AOA1; ataxia with oculomotor apraxia type 1; AR; autosomal recessive; ARCA; autosomal recessive cerebellar ataxia; ATM; ataxia talengiectasia; FA; Friedreich ataxia; GBA2; b-glucosidase 2; HSPs; hereditary spastic paraplegias; NGS;
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta
Keywords: مرتبط با X; AMELX; Amelogenesis imperfecta; X-linked; Enamel; Pre-mRNA splicing;
Case reportDeletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease
Keywords: مرتبط با X; Charcot-Marie-Tooth disease; X-linked; GJB1; Connexin 32; Deletion; P2 promoter; Schwann cell dysfunction;
Case reportGrand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
Keywords: مرتبط با X; Myotubular myopathy; Centronuclear myopathy; Myotubularin 1; MTM1; X-linked; Paternal transmission; Necklace fiber;
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins
Keywords: مرتبط با X; de novo mutation; X-linked; PAK3; Intellectual disability; Macrocephaly;
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1
Keywords: مرتبط با X; X-linked; Elliptocytosis; AMMECR1 gene; Genomics;
ARHGAP4 mutated in a Chinese intellectually challenged family
Keywords: مرتبط با X; XLMR; X-linked mental retardation; EEG; Electroencephalogram; MRI; Magnetic resonance imaging; PHA; Phytohemagglutinin; LM-PCR; Ligation-mediated polymerase chain reaction; SNPs; Single nucleotide polymorphisms; InDels; Insertions or deletions; BWA; Burro
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report
Keywords: مرتبط با X; Hypotonia; Ataxia; Hearing impairment; Recurrent infection; X-linked;
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy
Keywords: مرتبط با X; Chinese; familial exudative vitreoretinopathy; mutation; Norrie disease pseudoglioma; X-linked;
Two male sibs with severe micrognathia and a missense variant in MED12
Keywords: مرتبط با X; MED12; Intellectual disability; X-linked; Mental retardation; Micrognathia
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: مرتبط با X; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
Keywords: مرتبط با X; X-linked; Muscular dystrophy; Splice site mutation; Linkage analysis; Exome sequencingFHL1, four and a half LIM domain 1; EDMD, Emery–Dreifuss muscular dystrophy
Modeling the natural history of Pelizaeus-Merzbacher disease
Keywords: مرتبط با X; PMD; Pelizaeus-Merzbacher Disease; PLP1/Plp1; proteolipid protein 1 gene; TUNEL; Terminal deoxynucleotidyl transferase-mediated dUTP Nick End Labeling; OL; Oligdendrocyte; GFAP; Glial Fibrillary Acidic Protein.; X-linked; Hypomyelination; PLP1; Oligoden
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Keywords: مرتبط با X; Intellectual disability; X-linked; Mental retardation; Creatine deficiency syndrome; Urine screening
Combinación de la anhidrasa carbónica tópica y sistémica en el tratamiento de la retinosquisis ligada al cromosoma X
Keywords: مرتبط با X; Retinosquisis; Ligada-X; Cromosoma; Dorzolamida; Retinoschisis; X-linked; Chromosome; Dorzolamide;
A combination of topical and systemic carbonic anhydrase in the treatment of chromosome X-linked retinoschisis
Keywords: مرتبط با X; Retinoschisis; X-linked; Chromosome; DorzolamideRetinosquisis; Ligada-X; Cromosoma; Dorzolamida
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation
Keywords: مرتبط با X; Glycogen storage disease; Phosphorylase kinase deficiency; X-linked; Liver glycogenosis;
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree
Keywords: مرتبط با X; SEDL gene; Splicing mutation; Spondyloepiphyseal dysplasia tarda (SEDT); X-linked; Splicing mechanism;
Novel and de novo PHEX mutations in patients with hypophosphatemic rickets
Keywords: مرتبط با X; PHEX mutation; X-linked; Vitamin D; Hypophosphatemic rickets;
The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010
Keywords: مرتبط با X; X-linked; Ectodermal dysplasia; Hypohidrotic; Hypodontia;
Seizures and X-linked intellectual disability
Keywords: مرتبط با X; Epilepsy; Seizures; X-chromosome; X-linked; Intellectual disability; Syndrome;
Genética de la sordera congénita
Keywords: مرتبط با X; Sordera; Gen; Mutación; Autosómico recesivo; Autosómico dominante; Ligado a XDeafness; Gene; Mutation; Autosomal recessive; Autosomal dominant; X-linked
Pulmonary Complications of Genetic Disorders
Keywords: مرتبط با X; anomaly; isolated; recessive; dominant; x-linked
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
Keywords: مرتبط با X; X-linked; Intellectual disability; Autism; X-chromosome; Copy number variation; Clinical interpretation;
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Keywords: مرتبط با X; ACP33; Maspardin gene; AD; Autosomal dominant; ALS; Amyotrophic lateral sclerosis; AP; Adaptor Protein complex; AR; Autosomal recessive; ATL1; Atlastin-1 gene; BMP; Bone morphogenic protein; BSCL2; Berardinelli-Seip congenital lipodystrophy gene; CYP7B1;
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3–Xp11 in a Chinese family
Keywords: مرتبط با X; Growth hormone; Hypothyroidism; X-linked; Genetics
A novel mutation of RPGR gene in an X-Linked Chinese family with retinitis pigmentosa
Keywords: مرتبط با X; Retinitis pigmentosa; RPGR gene; Mutations; X-linked;
X-linked ichthyosis: An oculocutaneous genodermatosis
Keywords: مرتبط با X; genodermatosis; hyperkeratosis; ichthyosis; X-linked
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans
Keywords: مرتبط با X; Aminoaciduria; Autosomal dominant; Contiguous-gene syndrome; Siemens-1 syndrome; X-linked
X-linked primary immunodeficiencies as a bridge to better understandingX-chromosome related autoimmunity
Keywords: مرتبط با X; Autoimmunity; Primary immune deficiency; X-linked
Genetic study of an American family with DYT3 dystonia (lubag)
Keywords: مرتبط با X; Dystonia; Parkinsonism; Tremor; Lubag; X-linked;
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes
Keywords: مرتبط با X; Mental retardation; X-linked; Autistic disorder; NLGN4X; VCX
Impact psychologique de la maladie de Duchenne sur l’enfant et l’adolescent, ses parents, sa fratrie. Onze années d’expérience d’une consultation pluridisciplinaire
Keywords: مرتبط با X; Maladie de Duchenne; Maladie génétique; Maladie évolutive; Annonce du diagnostic; Impact psychologique sur l’enfant; Impact psychologique sur l’adolescent; Impact sur la famille : parents; FratrieDuchenne muscular dystrophy; Recessive; X-linked; Genetics;
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis
Keywords: مرتبط با X; EDA gene; Hypodontia; Non-syndromic; X-linked
Adrénoleucodystrophie liée à l'X
Keywords: مرتبط با X; Adrenoleukodystrophy; Adrenomyeloneuropathy; Peroxisome; ABC-transporter; Leukodystrophy; X-linked; Bone marrow transplantation; Hematopoietic stem cell; Gene therapyAdrénoleucodystrophie; Adrénomyéloneuropathie; Maladie d'Addison; Peroxysome; Transporteu
Anaesthetic management during labour of a manifesting carrier of Duchenne muscular dystrophy
Keywords: مرتبط با X; Genetic diseases; X-linked; muscular dystrophy; Duchenne; Anaesthesia; obstetric;
Familial dilated cardiomyopathy
Keywords: مرتبط با X; Familial dilated cardiomyopathy; Cardiac genes; Autosomal dominant; Autosomal recessive; X-linked;