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Nature Genetics vol. 46 no. 05 (May 2014)
Bibliografi
Bahasa:
(EN )
ISSN:
1061-4036
Year::
2014
Bulan:
05
Edisi:
May 2014
Penerbit:
Nature Publishing Group
Jenis:
Journal - ilmiah internasional
[
Lihat daftar eksemplar jurnal
Nature Genetics
]
Ketersediaan
Perpustakaan FK
Nomor Panggil:
N12.K
Non-tandon:
1 (dapat dipinjam: 0)
Tandon:
tidak ada
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Artikel dalam koleksi ini
Recurrent SMARCA4 mutations in small cell carcinoma of the ovary
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Heritability and genomics of gene expression in peripheral blood
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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
, halaman 438 - 443
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
, halaman 451 - 456
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
, halaman 457 - 461
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
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Genomic and molecular characterization of esophageal squamous cell carcinoma
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GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma
, halaman 474 - 477
POT1 loss-of-function variants predispose to familial melanoma
, halaman 478 - 481
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
, halaman 482 - 486
Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer
, halaman 487 - 491
Low copy number of the salivary amylase gene predisposes to obesity
, halaman 492 - 497
Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31
, halaman 498 - 502
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
, halaman 503 - 509
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
, halaman 510 - 515
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function
, halaman 516 - 521
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