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7. Improvement of gliquidone hypoglycaemic effect in rats by cyclodextrin formulations

8. INHIBITION OF NITRIC OXIDE SYNTHASE EXPRESSION BY A METHANOLIC EXTRACT OF CRESCENTIA ALATA AND ITS DERIVED FLAVONOLS

9. Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

11. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

12. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.

13. Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.

14. A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.

15. The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case-control study.

16. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

17. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

19. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.

20. Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.

21. Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.

22. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

23. Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature.

24. Epigenetics of pregnancy: looking beyond the DNA code.

25. Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

26. Genetics & Epigenetics of Hereditary Deafness: An Historical Overview.

27. DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

28. The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.

29. Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations.

30. Carcinoma of eyelid sebaceous glands: a case report.

31. Optic neuritis caused by ethembutol.

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