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Subject : genetics Publisher : cold spring harbor laboratory press Content Provider : OpenAIRE فلترة بواسطة : موضوع
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Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

Subjects: Genetics; Proband; Sanger sequencing

  • Source: Cold Spring Harbor Molecular Case Studies

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Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities

Subjects: Male; Microcephaly; GENES

  • Source: Cold Spring Harbor Molecular Case StudiesCOLD SPRING HARBOR MOLECULAR CASE STUDIES

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Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin

Subjects: 0301 basic medicine; Genome instability; DNA Copy Number Variations

  • Source: Cold Spring Harbor Molecular Case Studies

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A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents

Subjects: 0301 basic medicine; Male; congenital, hereditary, and neonatal diseases and abnormalities

  • Source: Cold Spring Harbor Molecular Case StudiesWilkes, David C; Sailer, Verena; Xue, Hui; Cheng, Hongwei; Collins, Colin C; Gleave, Martin; Wang, Yuzhuo; Demichelis, Francesca; Beltran, Himisha;

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Crystal structure of a signal recognition particle Alu domain in the elongation arrest conformation

Subjects: Translation; RNA Folding; Base pair

  • Source: RNARNA, Cold Spring Harbor Laboratory Press, 2014, 20 (12), pp.1955-62. ⟨10.1261/rna.047209.114⟩RNA, Vol. 20, No 12 (2014) pp. 1955-62

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Mining of public sequencing databases supports a non-dietary origin for putative foreign miRNAs: underestimated effects of contamination in NGS

Subjects: Adult; Male; Small RNA

  • Source: RNA; 20(6), pp 754-757 (2014)

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Cotranscriptional spliceosome assembly and splicing are independent of the Prp40p WW domain

Subjects: Spliceosome; Transcription, Genetic; Protein subunit

  • Source: RNARNA, Cold Spring Harbor Laboratory Press, 2011, 17 (12), pp.2119-2129. ⟨10.1261/rna.02646811⟩

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Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Subjects: Genetics; Mammals; ddc:616

  • Source: Genome Research, Vol. 17, No 6 (2007) pp. 760-774

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Genomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates

Subjects: Genetic Linkage; mammal; Teleostei

  • Source: Genome ResearchGenome Research, Cold Spring Harbor Laboratory Press, 2007, 17 (5), pp.545-55. ⟨10.1101/gr.6086307⟩

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Identification of novel peptide hormones in the human proteome by hidden Markov model screening

Subjects: Proteomics; protein augurin; Peptide Hormones

  • Source: Genome research 17 (2007): 320–327. doi:10.1101/gr.5755407info:cnr-pdr/source/autori:Mirabeau O. 1; Perlas E. 1; Severini C. 2; Audero E. 1; Gascuel O. 3; Possenti R. 2,4; Birney E. 5;

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  • 1-10 of  11 نتائج ل ""Article""