15 results on '"Sorrentino, Ugo"'
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2. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
3. Epigenetics of pregnancy: looking beyond the DNA code
4. 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.
5. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
6. Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature
7. Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes
8. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
9. Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
10. Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
11. Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients
12. Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
13. DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
14. Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations
15. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
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