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Nature Genetics vol. 44 no. 04 (Apr. 2012)
Bibliografi
Bahasa:
(EN )
ISSN:
1061-4036
Year::
2012
Bulan:
04
Edisi:
Apr 2012
Penerbit:
Nature Publishing Group
Jenis:
Journal - ilmiah internasional
[
Lihat daftar eksemplar jurnal
Nature Genetics
]
Ketersediaan
Perpustakaan FK
Nomor Panggil:
N12.K.2012.01
Non-tandon:
1 (dapat dipinjam: 0)
Tandon:
tidak ada
Lihat Detail Induk
Artikel dalam koleksi ini
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
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Ascorbic acid prevents loss of Dlk1-Dio3 imprinting and facilitates generation of all–iPS cell mice from terminally differentiated B cells
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Generation of functional insulin-producing cells in the gut by Foxo1 ablation
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Whole-genome analysis of diverse Chlamydia trachomatis strains identifies phylogenetic relationships masked by current clinical typing
, halaman 413–419
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression
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Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese
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A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
, halaman 435–439
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
, halaman 440–444
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
, halaman 445–449
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
, halaman 450–455
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
, halaman 456–460
A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion
, halaman 461–466
Reverse breeding in Arabidopsis thaliana generates homozygous parental lines from a heterozygous plant
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