Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 7
Results: 21
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278
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- Publication type:
- Article
Bone morphogenetic protein 7 ( BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 781, doi. 10.1002/humu.21280
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- Article
Cystathionine β-synthase mutations: effect of mutation topology on folding and activity.
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- Human Mutation, 2010, v. 31, n. 7, p. 809, doi. 10.1002/humu.21273
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- Article
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
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- Human Mutation, 2010, v. 31, n. 7, p. 840, doi. 10.1002/humu.21284
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- Publication type:
- Article
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate.
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- Human Mutation, 2010, v. 31, n. 7, p. 794, doi. 10.1002/humu.21266
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- Article
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
- Published in:
- 2010
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- Publication type:
- Other
Assessment of complement C4 gene copy number using the paralog ratio test.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 866, doi. 10.1002/humu.21259
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- Publication type:
- Article
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
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- Human Mutation, 2010, v. 31, n. 7, p. 858, doi. 10.1002/humu.21261
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- Publication type:
- Article
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
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- Human Mutation, 2010, v. 31, n. 7, p. 801, doi. 10.1002/humu.21272
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- Publication type:
- Article
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
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- Human Mutation, 2010, v. 31, n. 7, p. 830, doi. 10.1002/humu.21283
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- Publication type:
- Article
SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region.
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- Human Mutation, 2010, v. 31, n. 7, p. 875, doi. 10.1002/humu.21276
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- Publication type:
- Article
Genomic copy number variations in three Southeast Asian populations.
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- Human Mutation, 2010, v. 31, n. 7, p. 851, doi. 10.1002/humu.21287
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- Publication type:
- Article
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1564, doi. 10.1002/humu.21282
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- Publication type:
- Article
Mutations in SOHLH1 gene associate with nonobstructive Azoospermia.
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- Human Mutation, 2010, v. 31, n. 7, p. 788, doi. 10.1002/humu.21264
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- Publication type:
- Article
South East Asian CNVs Captured.
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- Human Mutation, 2010, v. 31, n. 7, p. v, doi. 10.1002/humu.21309
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- Publication type:
- Article
Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome.
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- Human Mutation, 2010, v. 31, n. 7, p. 820, doi. 10.1002/humu.21275
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- Publication type:
- Article
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1574, doi. 10.1002/humu.21286
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- Publication type:
- Article
HGV2009 meeting: bigger and better studies provide more answers and more questions.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 886, doi. 10.1002/humu.21270
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- Publication type:
- Article
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1551, doi. 10.1002/humu.21281
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- Publication type:
- Article
A Possible Role for JARID2 in Cleft Lip and Palate.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. v, doi. 10.1002/humu.21308
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- Publication type:
- Article
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.
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- Human Mutation, 2010, v. 31, n. 7, p. E1526, doi. 10.1002/humu.21274
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- Publication type:
- Article