Found: 11
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Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 243, doi. 10.1007/s004390000356
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- Publication type:
- Article
A Novel Gene for Neonatal Diabetes Maps to Chromosome 10p12.1-p13.
- Published in:
- Diabetes, 2003, v. 52, n. 10, p. 2636, doi. 10.2337/diabetes.52.10.2636
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- Publication type:
- Article
The Art of Meeting Palladium Specifications in Active Pharmaceutical Ingredients Produced by Pd-Catalyzed Reactions.
- Published in:
- Advanced Synthesis & Catalysis, 2004, v. 346, n. 8, p. 889
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- Publication type:
- Article
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 12, p. 1301, doi. 10.1038/ng1475
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- Publication type:
- Article
Prenatal Sonographic Diagnosis of Cleidocranial Dysostosis.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 8, p. 770, doi. 10.1002/(SICI)1097-0223(199708)17:8<770::AID-PD124>3.0.CO;2-#
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- Article
Exencephaly in autosomal dominant brachydactyly syndrome.
- Published in:
- 1995
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- Publication type:
- journal article
Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 438, doi. 10.1038/74307
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- Publication type:
- Article
Human piebaldism: six novel mutations of the proto-oncogene KIT.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9057
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- Publication type:
- Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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- Publication type:
- Article
Isomaltulose production using immobilized cells.
- Published in:
- Biotechnology & Bioengineering, 1985, v. 27, n. 4, p. 471, doi. 10.1002/bit.260270412
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- Publication type:
- Article
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 20, p. e164, doi. 10.1093/nar/gnh163
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- Publication type:
- Article