27 results on '"Palka, Chiara"'
Search Results
2. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
3. Non-invasive prenatal screening: A 20-year experience in Italy
4. Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
5. Discovering a familial Xp11.4 microduplication: Does the mother matter?
6. Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3
7. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis
8. An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations
9. Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women
10. 16p13.3 microduplication syndrome: A new characteristic case without intellectual disability
11. Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures
12. Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
13. De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects
14. Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH
15. Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment
16. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
17. Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
18. Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome
19. A new case of mosaicism for invdup(15) duplicated for Prader–Willi/Angelman syndrome critical region (PWACR) in an adult healthy man
20. Reticulate Vascular Lesions and a Large Head
21. Cystic hygroma and mid-trimester maternal serum screening
22. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
23. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
24. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
25. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
26. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
27. Lack of correlation between elevated maternal serum hCG during second‐trimester biochemical screening and fetal congenital anomaly
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