Found: 16
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Neurofibromin (NF1) genetic variant structure--function analyses using a full-length mouse cDNA.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 816, doi. 10.1002/humu.23421
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- Article
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
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- Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
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- Article
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.
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- Human Mutation, 2018, v. 39, n. 6, p. 811, doi. 10.1002/humu.23417
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- Article
Genotype-specific progression of hereditary medullary thyroid cancer.
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- Human Mutation, 2018, v. 39, n. 6, p. 860, doi. 10.1002/humu.23430
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- Article
Inferring the effect of genomic variation in the new era of genomics.
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- Human Mutation, 2018, v. 39, n. 6, p. 756, doi. 10.1002/humu.23427
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- Article
Erratum.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 882, doi. 10.1002/humu.23410
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- Article
Yet another database?
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 755, doi. 10.1002/humu.23429
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- Article
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
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- Human Mutation, 2018, v. 39, n. 6, p. 790, doi. 10.1002/humu.23428
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- Article
Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer risk.
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- Human Mutation, 2018, v. 39, n. 6, p. 851, doi. 10.1002/humu.23425
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- Article
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 827, doi. 10.1002/humu.23426
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- Article
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
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- Human Mutation, 2018, v. 39, n. 6, p. 834, doi. 10.1002/humu.23424
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- Article
STX2 is a causative gene for nonobstructive azoospermia.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 830, doi. 10.1002/humu.23423
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- Article
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 806, doi. 10.1002/humu.23422
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- Article
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 822, doi. 10.1002/humu.23420
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- Article
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 774, doi. 10.1002/humu.23418
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- Article
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 841, doi. 10.1002/humu.23416
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- Article