Found: 19
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High Frequency of Mutations in Four Different Disease Genes in Early-Onset Dementia.
- Published in:
- Annals of the New York Academy of Sciences, 2000, v. 920, n. 1, p. 100, doi. 10.1111/j.1749-6632.2000.tb06910.x
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- Article
Molecular genetic alterations on chromosomes 11 and 22 in ependymomas.
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- International Journal of Cancer, 2001, v. 91, n. 6, p. 803, doi. 10.1002/1097-0215(200002)9999:9999<::AID-IJC1134>3.0.CO;2-P
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- Article
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
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- Neurogenetics, 2005, v. 6, n. 2, p. 85, doi. 10.1007/s10048-005-0211-x
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- Article
Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers
- Published in:
- 2012
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- Publication type:
- Abstract
S2-01-05: Future of association studies in common AD
- Published in:
- 2006
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- Publication type:
- Abstract
S2-01-05: Future of association studies in common AD
- Published in:
- 2006
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- Publication type:
- Abstract
Absence of angiotensin II type 1 receptor gene mutations in human adrenal tumors.
- Published in:
- European Journal of Endocrinology, 1997, v. 137, n. 3, p. 262, doi. 10.1530/eje.0.1370262
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- Article
Prenatal molecular diagnosis of L1-spectrum disorders.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 9, p. 744, doi. 10.1002/1097-0223(200009)20:9<744::AID-PD865>3.0.CO;2-W
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- Article
Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.
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- EMBO Molecular Medicine, 2012, v. 4, n. 7, p. 647, doi. 10.1002/emmm.201200239
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- Article
Book and media reviews.
- Published in:
- 1996
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- Publication type:
- Book Review
Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study.
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- British Journal of Haematology, 2014, v. 167, n. 3, p. 385, doi. 10.1111/bjh.13039
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- Article
Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln<sub>49</sub> TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.
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- BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-27
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- Article
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
- Published in:
- Human Mutation, 2008, v. 29, n. 5, p. 709, doi. 10.1002/humu.20712
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- Article
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.
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- Human Mutation, 2002, v. 20, n. 6, p. 481, doi. 10.1002/humu.9096
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- Article
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
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- Human Mutation, 2002, v. 19, n. 1, p. 30, doi. 10.1002/humu.10016
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- Article
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
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- Human Mutation, 1998, v. 12, n. 3, p. 206, doi. 10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E
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- Publication type:
- Article
The Interdisciplinary Diagnosis of Rare Diseases.
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- 2023
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- Letter to the Editor
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 801, doi. 10.1002/humu.21272
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- Publication type:
- Article
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro
- Published in:
- FEBS Letters, 2006, v. 580, n. 14, p. 3489, doi. 10.1016/j.febslet.2006.05.026
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- Publication type:
- Article