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Chiara Palka

Showing results (1-10 of 30) with videos related to

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Diagnostics (Basel, Switzerland)|December 24, 2021
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An OverviewGiulia Sabbatinelli, Donatella Fantasia, Chiara Palka, et al.
Mutation Research|March 12, 2004
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndromeValentina Gatta, Oronzo Scarciolla, Massimo Cupaioli, et al.
Cytogenetic and Genome Research|August 18, 2015
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence SeizuresAlberto Verrotti, Chiara Palka, Giovanni Prezioso, et al.
Molecular Cytogenetics|June 27, 2022
First case of two supernumerary markers derived from chromosome 5 and chromosome 8Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, et al.
European Journal of Medical Genetics|April 2, 2008
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy manPaolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, et al.
Prenatal Diagnosis|July 30, 2011
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant womenPaolo Guanciali-Franchi, Irene Iezzi, Chiara Palka, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
Molecular Syndromology|February 25, 2017
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic AlterationsPaolo Guanciali-Franchi, Claudio Celentano, Melissa Alfonsi, et al.
Journal of Medical Screening|October 11, 2007
Cystic hygroma and mid-trimester maternal serum screeningClaudio Celentano, Federico Prefumo, Irene Iezzi, et al.
Journal of Genetics|April 19, 2018
Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3Maurizia Colangelo, Melissa Alfonsi, Chiara Palka, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Diagnostics (Basel, Switzerland)|December 24, 2021
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An OverviewGiulia Sabbatinelli, Donatella Fantasia, Chiara Palka, et al.
Mutation Research|March 12, 2004
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndromeValentina Gatta, Oronzo Scarciolla, Massimo Cupaioli, et al.
Cytogenetic and Genome Research|August 18, 2015
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence SeizuresAlberto Verrotti, Chiara Palka, Giovanni Prezioso, et al.
Molecular Cytogenetics|June 27, 2022
First case of two supernumerary markers derived from chromosome 5 and chromosome 8Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, et al.
European Journal of Medical Genetics|April 2, 2008
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy manPaolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, et al.
Prenatal Diagnosis|July 30, 2011
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant womenPaolo Guanciali-Franchi, Irene Iezzi, Chiara Palka, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
Molecular Syndromology|February 25, 2017
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic AlterationsPaolo Guanciali-Franchi, Claudio Celentano, Melissa Alfonsi, et al.
Journal of Medical Screening|October 11, 2007
Cystic hygroma and mid-trimester maternal serum screeningClaudio Celentano, Federico Prefumo, Irene Iezzi, et al.
Journal of Genetics|April 19, 2018
Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3Maurizia Colangelo, Melissa Alfonsi, Chiara Palka, et al.
Pageof 3