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Maria Piccione

Showing results (41-50 of 74) with videos related to

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BMC Pediatrics|March 30, 2019
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature reviewGloria Pelizzo, Mirella Collura, Aurora Puglisi, et al.
Italian Journal of Pediatrics|July 12, 2013
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?Simona La Placa, Mario Giuffrè, Antonella Gangemi, et al.
Life (Basel, Switzerland)|January 21, 2023
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic FluidMargherita Vinciguerra, Filippo Leto, Filippo Cassarà, et al.
Journal of Genetics|May 7, 2009
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testesMichele Salemi, Corrado Romano, Concetta Barone, et al.
International Journal of Molecular Sciences|March 25, 2022
Further Delineation of Duplications of <i>ARX</i> Locus Detected in Male Patients with Varying Degrees of Intellectual DisabilityLoredana Poeta, Michela Malacarne, Agnese Padula, et al.
Rejuvenation Research|June 15, 2007
Apolipoprotein E genotypic frequencies among Down syndrome patients imply early unsuccessful aging for ApoE4 carriersGiusi I Forte, Maria Piccione, Letizia Scola, et al.
Scientific Reports|June 27, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestationsAndrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, et al.
Blood|May 29, 2015
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairmentAlister P W Funnell, Paolo Prontera, Valentina Ottaviani, et al.
The Journal of Pharmacy and Pharmacology|August 16, 2017
Circannual variation of mitotane and its metabolites plasma levels in patients with adrenocortical carcinomaJessica Cusato, Silvia De Francia, Sarah Allegra, et al.
European Journal of Human Genetics : EJHG|November 22, 2012
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomasBertrand Isidor, Franck Bourdeaut, Delfine Lafon, et al.
Pageof 8

Showing results (41-50 of 74) with videos related to

Sort By:
Pageof 8
BMC Pediatrics|March 30, 2019
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature reviewGloria Pelizzo, Mirella Collura, Aurora Puglisi, et al.
Italian Journal of Pediatrics|July 12, 2013
Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?Simona La Placa, Mario Giuffrè, Antonella Gangemi, et al.
Life (Basel, Switzerland)|January 21, 2023
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic FluidMargherita Vinciguerra, Filippo Leto, Filippo Cassarà, et al.
Journal of Genetics|May 7, 2009
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testesMichele Salemi, Corrado Romano, Concetta Barone, et al.
International Journal of Molecular Sciences|March 25, 2022
Further Delineation of Duplications of <i>ARX</i> Locus Detected in Male Patients with Varying Degrees of Intellectual DisabilityLoredana Poeta, Michela Malacarne, Agnese Padula, et al.
Rejuvenation Research|June 15, 2007
Apolipoprotein E genotypic frequencies among Down syndrome patients imply early unsuccessful aging for ApoE4 carriersGiusi I Forte, Maria Piccione, Letizia Scola, et al.
Scientific Reports|June 27, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestationsAndrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, et al.
Blood|May 29, 2015
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairmentAlister P W Funnell, Paolo Prontera, Valentina Ottaviani, et al.
The Journal of Pharmacy and Pharmacology|August 16, 2017
Circannual variation of mitotane and its metabolites plasma levels in patients with adrenocortical carcinomaJessica Cusato, Silvia De Francia, Sarah Allegra, et al.
European Journal of Human Genetics : EJHG|November 22, 2012
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomasBertrand Isidor, Franck Bourdeaut, Delfine Lafon, et al.
Pageof 8