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Chiara Palka

Showing results (21-30 of 30) with videos related to

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Current Issues in Molecular Biology|January 24, 2025
1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New CaseMaria Minelli, Chiara Palka Bayard de Volo, Melissa Alfonsi, et al.
Cytogenetic and Genome Research|July 18, 2019
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?Stefano Tumini, Melissa Alfonsi, Silvia Carinci, et al.
Case Reports in Genetics|June 8, 2026
A Case of Pallister-Killian Syndrome in a NewbornGiulia Di Donato, Chiara Cauzzo, Paola Cicioni, et al.
Birth Defects Research|May 24, 2023
Neonatal diagnosis of circumferential skin creasesChiara Cauzzo, Valentina Chiavaroli, Chiara Palka Bayard de Volo, et al.
Pediatrics|December 7, 2011
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairmentChiara Palka, Melissa Alfonsi, Angelika Mohn, et al.
Human Genetics|April 21, 2005
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)Valentina Gatta, Oronzo Scarciolla, Anna Rita Gaspari, et al.
Gene|February 14, 2012
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancerChiara Palka Bayard de Volo, Melissa Alfonsi, Valentina Gatta, et al.
Neurogenetics|July 26, 2006
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplificationOronzo Scarciolla, Liborio Stuppia, Maria Vittoria De Angelis, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programsLiborio Stuppia, Ivana Antonucci, Francesco Binni, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Current Issues in Molecular Biology|January 24, 2025
1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New CaseMaria Minelli, Chiara Palka Bayard de Volo, Melissa Alfonsi, et al.
Cytogenetic and Genome Research|July 18, 2019
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?Stefano Tumini, Melissa Alfonsi, Silvia Carinci, et al.
Case Reports in Genetics|June 8, 2026
A Case of Pallister-Killian Syndrome in a NewbornGiulia Di Donato, Chiara Cauzzo, Paola Cicioni, et al.
Birth Defects Research|May 24, 2023
Neonatal diagnosis of circumferential skin creasesChiara Cauzzo, Valentina Chiavaroli, Chiara Palka Bayard de Volo, et al.
Pediatrics|December 7, 2011
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairmentChiara Palka, Melissa Alfonsi, Angelika Mohn, et al.
Human Genetics|April 21, 2005
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)Valentina Gatta, Oronzo Scarciolla, Anna Rita Gaspari, et al.
Gene|February 14, 2012
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancerChiara Palka Bayard de Volo, Melissa Alfonsi, Valentina Gatta, et al.
Neurogenetics|July 26, 2006
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplificationOronzo Scarciolla, Liborio Stuppia, Maria Vittoria De Angelis, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programsLiborio Stuppia, Ivana Antonucci, Francesco Binni, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Pageof 3