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Maria Piccione

Showing results (21-30 of 74) with videos related to

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Gene|February 4, 2014
Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new casePietro Palumbo, Vincenzo Antona, Orazio Palumbo, et al.
Italian Journal of Pediatrics|April 6, 2018
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1Giovanni Corsello, Vincenzo Antona, Gregorio Serra, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|March 23, 2012
A new HPLC UV validated method for therapeutic monitoring of deferasirox in thalassaemic patientsSilvia De Francia, Davide Massano, Francesca Maria Piccione, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Perlman syndrome: clinical report and nine-year follow-upMaria Piccione, Massimiliano Cecconi, Mario Giuffrè, et al.
Genes|December 2, 2020
Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA GenesCarmela Rita Balistreri, Claudia Leonarda Ammoscato, Letizia Scola, et al.
Journal of Genetics|January 10, 2012
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disordersMaria Piccione, Cinzia Sanfilippo, Simona Cavani, et al.
Journal of Pediatric Genetics|July 28, 2020
Primary Microcephaly with Novel Variant of <i>MCPH1</i> Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's ThyroiditisPiero Pavone, Xena Giada Pappalardo, Andrea Domenico Praticò, et al.
Italian Journal of Pediatrics|August 19, 2022
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 geneFrancesca Mercadante, Ettore Piro, Martina Busè, et al.
Case Reports in Pediatrics|September 25, 2018
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?Gloria Pelizzo, Aurora Puglisi, Maria Lapi, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4qMario Giuffrè, Simona La Placa, Maurizio Carta, et al.
Pageof 8

Showing results (21-30 of 74) with videos related to

Sort By:
Pageof 8
Gene|February 4, 2014
Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new casePietro Palumbo, Vincenzo Antona, Orazio Palumbo, et al.
Italian Journal of Pediatrics|April 6, 2018
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1Giovanni Corsello, Vincenzo Antona, Gregorio Serra, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|March 23, 2012
A new HPLC UV validated method for therapeutic monitoring of deferasirox in thalassaemic patientsSilvia De Francia, Davide Massano, Francesca Maria Piccione, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
Perlman syndrome: clinical report and nine-year follow-upMaria Piccione, Massimiliano Cecconi, Mario Giuffrè, et al.
Genes|December 2, 2020
Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA GenesCarmela Rita Balistreri, Claudia Leonarda Ammoscato, Letizia Scola, et al.
Journal of Genetics|January 10, 2012
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disordersMaria Piccione, Cinzia Sanfilippo, Simona Cavani, et al.
Journal of Pediatric Genetics|July 28, 2020
Primary Microcephaly with Novel Variant of <i>MCPH1</i> Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's ThyroiditisPiero Pavone, Xena Giada Pappalardo, Andrea Domenico Praticò, et al.
Italian Journal of Pediatrics|August 19, 2022
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 geneFrancesca Mercadante, Ettore Piro, Martina Busè, et al.
Case Reports in Pediatrics|September 25, 2018
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?Gloria Pelizzo, Aurora Puglisi, Maria Lapi, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4qMario Giuffrè, Simona La Placa, Maurizio Carta, et al.
Pageof 8