Keywords: نقشه برداری هوموسیگوشی; Copy number variation (CNV); Deafness; GJB2; Homozygosity mapping; Linkage analysis; Missing heritability; Next generation sequencing (NGS); Non-syndromic hearing loss (NSHL); Positional cloning;
مقالات ISI نقشه برداری هوموسیگوشی (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: نقشه برداری هوموسیگوشی; Consanguinity; genetic disease; linkage analysis; gene discovery; identical by descent (IBD); homozygosity mapping; kidney research; pediatrics; population differences; Saudi Arabia;
Keywords: نقشه برداری هوموسیگوشی; Profound syndromic intellectual disability; Autosomal recessive; Consanguineous family; Homozygosity mapping; Whole-genome sequencing; TKT; P4HTM; USP4
Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
Keywords: نقشه برداری هوموسیگوشی; AR; autosomal recessive; EB; epidermolysis bullosa; GATK; Genome Analysis Toolkit; HM; homozygosity mapping; Mb; mega base pair; NGS; next-generation sequencing; ROH; region of homozygosity; SNP; single nucleotide polymorphism; WES; whole-exome sequencing
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
Keywords: نقشه برداری هوموسیگوشی; Microphthalmia; OPPG; LRP5; Homozygosity mapping; Exome sequencing;
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family
Keywords: نقشه برداری هوموسیگوشی; Molecular diagnostics; Papillon–Lefevre syndrome; Whole-exome sequencing; Homozygosity mapping; CTSC gene; Saudi Arabia
Recurrent null mutation in SPG20 leads to Troyer syndrome
Keywords: نقشه برداری هوموسیگوشی; SPG20; ARID; NGS; Homozygosity mapping; Pleiotropy;
Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing
Keywords: نقشه برداری هوموسیگوشی; Ciliopathy; Joubert syndrome and related disorders; Bardet-Biedl syndrome; Meckel syndrome; Homozygosity mapping; Mutation frequencies;
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings
Keywords: نقشه برداری هوموسیگوشی; BRLMM; Bayesian Robust Linear Model with Mahalanobis distance classifier; C; cytosine; DNA; desoxyribonucleic acid; GALK1; galactokinase; GALT; galactose-1-phosphate uridyltransferase; GALE; UDP-galactose-4â²-epimerase; Mb; megabase; Ng; nanogram; OMIM;
Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features
Keywords: نقشه برداری هوموسیگوشی; ATP13A2; p.Gln858*; Early onset Parkinson's disease; EOPD; Homozygosity mapping;
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels
Keywords: نقشه برداری هوموسیگوشی; Exome; Filtering; Software; Mendelian disease; Homozygosity mapping;
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation
Keywords: نقشه برداری هوموسیگوشی; SPG; ARID; NGS; Homozygosity mapping; Syria
Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family
Keywords: نقشه برداری هوموسیگوشی; Genetics; Homozygosity mapping; MNX1; Neonatal diabetes mellitus; Transcription factorGénétique; Homozygotie; MNX1; Diabète néonatal; Facteur de transcriptionMNX1, motor neuron and pancreas homoeobox protein 1; NDM, neonatal diabetes mellitus; ROH, run of
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
Keywords: نقشه برداری هوموسیگوشی; DFNB35; ESRRB; Homozygosity mapping; Non-syndromic hearing loss
Genome-wide analysis of mitral valve disease in Cavalier King Charles Spaniels
Keywords: نقشه برداری هوموسیگوشی; Mitral valve disease; Cavalier King Charles Spaniel; Genome-wide association; Homozygosity mapping; DNA analysis;
Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability
Keywords: نقشه برداری هوموسیگوشی; Next generation sequencing; Intellectual disability; Homozygosity mapping; Submicroscopic; TPO; Congenital hypothyroidism
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
Keywords: نقشه برداری هوموسیگوشی; Intellectual disability; Mental retardation; Microcephaly; TRAPPC9; Homozygosity mapping; Splice site mutation; Exon skipping
SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
Keywords: نقشه برداری هوموسیگوشی; CAPN3; CAV3; FKRP; Homozygosity mapping; LGMD2; SNP array;
Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome
Keywords: نقشه برداری هوموسیگوشی; homozygosity mapping; nephrotic syndrome; next-generation sequencing
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22
Keywords: نقشه برداری هوموسیگوشی; Homozygosity mapping; Autosomal recessive ALS; Motor neuron disease;
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden
Keywords: نقشه برداری هوموسیگوشی; Kostmann syndrome; Severe congenital neutropenia; SNP array; Homozygosity mapping
Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria
Keywords: نقشه برداری هوموسیگوشی; Classical xanthinuria type II; XDH and AO deficiency; Muscle pain; Allopurinol loading test; Homozygosity mapping; C-terminal domain of HMCS; Jewish patient; Bedouin-Arab patient
DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray
Keywords: نقشه برداری هوموسیگوشی; homozygosity mapping; single-nucleotide polymorphism microarray; whole-genome scan; xeroderma pigmentosum;