13 results on '"Sorrentino, Ugo"'
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2. 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
3. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
4. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
5. 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.
6. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
7. PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene.
8. A yeast based assay establishes the pathogenicity of novel missense ACTA2variants associated with aortic aneurysms
9. ZFHX4 truncating variant and orofacial clefting.
10. Potassium Channel Subunit Kir4.1 Mutated in Paroxysmal Kinesigenic Dyskinesia: Screening of an Italian Cohort.
11. Heterozygosity for loss-of-function variants in LZTR1is associated with isolated multiple café-au-laitmacules
12. Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
13. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
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