Found: 12
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A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
- Published in:
- Scientific Reports, 2017, p. 44138, doi. 10.1038/srep44138
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- Article
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 218, doi. 10.1038/ejhg.2009.165
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- Article
Exploiting single-molecule transcript sequencing for eukaryotic gene prediction.
- Published in:
- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0729-7
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- Article
Exploiting single-molecule transcript sequencing for eukaryotic gene prediction.
- Published in:
- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0729-7
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- Publication type:
- Article
DNA Hypomethylation at ALOX12 Is Associated with Persistent Wheezing in Childhood.
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- American Journal of Respiratory & Critical Care Medicine, 2012, v. 185, n. 9, p. 937, doi. 10.1164/rccm.201105-0870OC
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- Article
Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition.
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- Microbiome, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40168-018-0592-3
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- Article
Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France.
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- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04666
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- Article
A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy.
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- Human Mutation, 2005, v. 26, n. 3, p. 274, doi. 10.1002/humu.20218
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- Article
Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2005, v. 26, n. 3, p. 276, doi. 10.1002/humu.20219
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- Article
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and 'modifier' polymorphisms.
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- Human Mutation, 2004, v. 23, n. 6, p. 567, doi. 10.1002/humu.20043
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- Article
Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.
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- Neurogenetics, 2009, v. 10, n. 3, p. 191, doi. 10.1007/s10048-008-0169-6
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- Article
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
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- Human Mutation, 1998, v. 12, n. 4, p. 274, doi. 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
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- Article