19 results on '"Frebourg T"'
Search Results
2. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
3. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
4. Frequent mutation in North African patients with MUTYH-associated polyposis
5. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
6. Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients
7. Molecular Profiling of Bladder Tumors Based on the Detection of FGFR3 and TP53 Mutations
8. Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
9. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
10. Golli-MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies
11. Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update
12. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
13. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing
14. The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit
15. Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC
16. LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
17. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene
18. Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimerʼs disease
19. No effect of the alpha 1-antichymotrypsin A allele in Alzheimer's disease
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