Found: 25
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Actin out with filamin: Two sides of the story.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 5, doi. 10.1002/humu.22572
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- Article
Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study.
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- Human Mutation, 2012, v. 33, n. 4, p. 655, doi. 10.1002/humu.22040
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- Article
Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
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- Human Mutation, 2012, v. 33, n. 4, p. 674, doi. 10.1002/humu.22022
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- Article
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
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- Human Mutation, 2012, v. 33, n. 4, p. 614, doi. 10.1002/humu.22032
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- Article
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 763, doi. 10.1002/humu.22044
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- Article
Exome and whole-genome sequencing for gene discovery: The future is now!
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 591, doi. 10.1002/humu.22055
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- Article
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.
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- Human Mutation, 2012, v. 33, n. 4, p. 703, doi. 10.1002/humu.22026
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- Article
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 728, doi. 10.1002/humu.22037
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- Article
Detecting false-positive signals in exome sequencing.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033
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- Article
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
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- Human Mutation, 2012, v. 33, n. 4, p. 690, doi. 10.1002/humu.22025
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- Article
Assessing the Enrichment Performance in Targeted Resequencing Experiments.
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- Human Mutation, 2012, v. 33, n. 4, p. 635, doi. 10.1002/humu.22036
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- Article
PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder.
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- Human Mutation, 2012, v. 33, n. 4, p. 627, doi. 10.1002/humu.22029
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- Article
Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritis.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 741, doi. 10.1002/humu.22031
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- Article
Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
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- Human Mutation, 2012, v. 33, n. 4, p. 660, doi. 10.1002/humu.22042
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- Article
Analysis of DNA sequence variants detected by high-throughput sequencing.
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- Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035
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- Article
SEPT12 mutations cause male infertility with defective sperm annulus.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 710, doi. 10.1002/humu.22028
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- Article
KMD: Korean mutation database for genes related to diseases.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. E2332, doi. 10.1002/humu.22039
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- Article
KMD: A country-specific genetic variation resource for Korea.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 5, doi. 10.1002/humu.22573
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- Article
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 720, doi. 10.1002/humu.22030
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- Publication type:
- Article
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 665, doi. 10.1002/humu.22012
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- Article
Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
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- Human Mutation, 2012, v. 33, n. 4, p. 750, doi. 10.1002/humu.22041
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- Article
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
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- Human Mutation, 2012, v. 33, n. 4, p. 681, doi. 10.1002/humu.22023
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- Article
VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 593, doi. 10.1002/humu.22034
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- Article
A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 651, doi. 10.1002/humu.22027
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- Article
Classification of mismatch repair gene missense variants with PON-MMR.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 642, doi. 10.1002/humu.22038
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- Article