Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 7
Results: 11
Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts.
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- Human Genetics, 2017, v. 136, n. 7, p. 805, doi. 10.1007/s00439-017-1797-4
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- Article
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice.
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- Human Genetics, 2017, v. 136, n. 7, p. 875, doi. 10.1007/s00439-017-1801-z
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- Article
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
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- Human Genetics, 2017, v. 136, n. 7, p. 835, doi. 10.1007/s00439-017-1804-9
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- Article
Global skin colour prediction from DNA.
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- Human Genetics, 2017, v. 136, n. 7, p. 847, doi. 10.1007/s00439-017-1808-5
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- Article
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.
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- Human Genetics, 2017, v. 136, n. 7, p. 867, doi. 10.1007/s00439-017-1810-y
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- Article
Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study.
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- Human Genetics, 2017, v. 136, n. 7, p. 897, doi. 10.1007/s00439-017-1811-x
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- Article
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT- ND1 gene.
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- Human Genetics, 2017, v. 136, n. 7, p. 885, doi. 10.1007/s00439-017-1812-9
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- Article
A recessive mutation in beta-IV-spectrin ( SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
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- Human Genetics, 2017, v. 136, n. 7, p. 903, doi. 10.1007/s00439-017-1814-7
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- Article
Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants.
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- Human Genetics, 2017, v. 136, n. 7, p. 911, doi. 10.1007/s00439-017-1815-6
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- Article
Erratum to: Global skin colour prediction from DNA.
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- 2017
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- Erratum
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
- Published in:
- Human Genetics, 2017, v. 136, n. 7, p. 821, doi. 10.1007/s00439-017-1795-6
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- Article