Chiara Palka

Chieti, Italy

Last Updated: 09/26/2026

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Found 14 publications

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Journal: Journal of medical genetics

Published: January 20, 2026

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

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

Journal: Diagnostics (Basel, Switzerland)

Published: November 15, 2021

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

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

Journal: Molecular genetics & genomic medicine

Published: July 25, 2019

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

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

Journal: Cytogenetic and genome research

Published: June 06, 2019

Non-invasive prenatal screening: A 20-year experience in Italy.

Non-invasive prenatal screening: A 20-year experience in Italy.

Journal: European journal of obstetrics & gynecology and reproductive biology: X

Published: March 04, 2019

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Journal: Journal of genetics

Published: April 19, 2018

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

Journal: PloS one

Published: May 15, 2017

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Journal: Molecular syndromology

Published: September 26, 2016

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.

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.

Journal: Molecular genetics & genomic medicine

Published: May 05, 2016

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Journal: BMC medical genetics

Published: March 31, 2014

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

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

Journal: Clinical dysmorphology

Published: June 01, 2013

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.

Journal: Clinical dysmorphology

Published: March 13, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026