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Cover Image, Volume 38, Issue 10.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
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- Article
Issue Information.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1277, doi. 10.1002/humu.23103
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- Article
'Matching' consent to purpose: The example of the Matchmaker Exchange.
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- Human Mutation, 2017, v. 38, n. 10, p. 1281, doi. 10.1002/humu.23278
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IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
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- Human Mutation, 2017, v. 38, n. 10, p. 1286, doi. 10.1002/humu.23302
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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
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- Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276
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- Article
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.
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- Human Mutation, 2017, v. 38, n. 10, p. 1316, doi. 10.1002/humu.23277
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- Article
Semi-automated cancer genome analysis using high-performance computing.
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- Human Mutation, 2017, v. 38, n. 10, p. 1325, doi. 10.1002/humu.23275
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Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.
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- Human Mutation, 2017, v. 38, n. 10, p. 1336, doi. 10.1002/humu.23283
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- Article
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
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- Human Mutation, 2017, v. 38, n. 10, p. 1348, doi. 10.1002/humu.23250
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- Article
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
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- Human Mutation, 2017, v. 38, n. 10, p. 1355, doi. 10.1002/humu.23274
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- Article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
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- Human Mutation, 2017, v. 38, n. 10, p. 1360, doi. 10.1002/humu.23281
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- Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
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- Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
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- Article
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
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- Human Mutation, 2017, v. 38, n. 10, p. 1372, doi. 10.1002/humu.23288
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Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome.
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- Human Mutation, 2017, v. 38, n. 10, p. 1378, doi. 10.1002/humu.23252
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Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
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- Human Mutation, 2017, v. 38, n. 10, p. 1394, doi. 10.1002/humu.23268
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Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.
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- Human Mutation, 2017, v. 38, n. 10, p. 1402, doi. 10.1002/humu.23271
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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
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- Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
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New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.
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- Human Mutation, 2017, v. 38, n. 10, p. 1421, doi. 10.1002/humu.23285
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
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- Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304
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Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.
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- Human Mutation, 2017, v. 38, n. 10, p. 1442, doi. 10.1002/humu.23289
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