23 results on '"Antonarakis, S."'
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2. Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
3. Guidelines for investigating causality of sequence variants in human disease
4. Arg16 homozygosity of the β2-adrenergic receptor improves the outcome after β2-agonist tocolysis for preterm labor
5. Trapping and sequence analysis of 1138 putative exons from human chromosome 18
6. Nomenclature for the description of human sequence variations
7. Frequency of replication/transcription errors in (A)/(T) runs of human genes
8. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes
9. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes
10. Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes
11. The DNA sequence of human chromosome 21
12. Primary Ciliary Dyskinesia: A search for the responsible genes through linkage and candidate gene approaches
13. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
14. A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years
15. Early-onset dementias: clinical, neuropathological and genetic characteristics
16. The human lanosterol synthase gene maps to chromosome 21q22.3
17. Posterpräsentation
18. Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor
19. The human gene encoding insulin-like growth factor I is located on chromosome 12
20. HEMOPHILIA A: RECURRENT MUTATIONS AND AN UNUSUAL DELETION
21. Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]
22. 800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21
23. Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome
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