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Chiara Palka

Mendel University

34

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480

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Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

2021
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Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

2020 Molecular Genetics & Genomic Medicine
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Non-invasive prenatal screening: A 20-year experience in Italy.

2019
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Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence

2019 Cytogenetic and Genome Research
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Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3

2018 Journal of Genetics
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16p13.3 microduplication syndrome: A new characteristic case without intellectual disability

2016 Gene Reports
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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

2016 Molecular Genetics & Genomic Medicine
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Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures

2015 Cytogenetic and Genome Research
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Mutations Involving FIBULIN2 are a Novel Cause of 46,XY DSD

2014
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De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

2013 Clinical Dysmorphology
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