Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 7
Results: 19
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 718, doi. 10.1002/humu.20510
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- Article
RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.
- Published in:
- 2007
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- Publication type:
- Other
Pathogenic mutations in Parkinson disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 641, doi. 10.1002/humu.20507
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- Publication type:
- Article
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 741, doi. 10.1002/humu.9498
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- Article
A new variant database for mismatch repair genes associated with Lynch syndrome.
- Published in:
- 2007
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- Publication type:
- Other
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501
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- Publication type:
- Article
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 674, doi. 10.1002/humu.20546
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- Article
Human Mutation bids farewell to co-editor Haig H. Kazazian, Jr.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. v, doi. 10.1002/humu.20597
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- Article
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 694, doi. 10.1002/humu.20498
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- Publication type:
- Article
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9500
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- Article
Haig H. Kazazian, Jr.: a fifteen-year commitment to excellence.
- Published in:
- 2007
- Publication type:
- Other
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 703, doi. 10.1002/humu.20500
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- Publication type:
- Article
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 724, doi. 10.1002/humu.20511
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- Publication type:
- Article
Promoter polymorphisms in the MATP ( SLC45A2) gene are associated with normal human skin color variation.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 710, doi. 10.1002/humu.20504
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- Publication type:
- Article
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 732, doi. 10.1002/humu.20515
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- Publication type:
- Article
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase ( TYR).
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 683, doi. 10.1002/humu.20492
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- Publication type:
- Article
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508
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- Publication type:
- Article
PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease.
- Published in:
- 2007
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- Publication type:
- Other
p.Gln200Glu, a putative constitutively active mutant of rod α-transducin ( GNAT1) in autosomal dominant congenital stationary night blindness.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 741, doi. 10.1002/humu.9499
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- Publication type:
- Article