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15 results on '"Ferrero, G"'

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1. Recessive gene disruptions in autism spectrum disorder

2. Mapping the human genetic architecture of COVID-19

3. Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

4. Clinical, Radiometabolic and Immunologic Effects of Olaparib in Locally Advanced Triple Negative Breast Cancer: The OLTRE Window of Opportunity Trial

5. Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

6. The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

7. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

8. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

9. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

10. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3

11. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency

12. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

13. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm

14. A Submicroscopic Deletion in Xq26 Associated with Familial Situs Ambiguus

15. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

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