15 results on '"Garzo, Maria"'
Search Results
2. Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient
3. Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature
4. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
5. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
6. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
7. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
8. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
9. Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases
10. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
11. Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations
12. Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)
13. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.
14. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
15. Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.