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Maria Antonietta Mencarelli

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 24, 2020
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterizationChiara Romano, Silvia Ferranti, Maria Antonietta Mencarelli, et al.
American Journal of Medical Genetics. Part A|March 14, 2007
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGHMaria Antonietta Mencarelli, Rossella Caselli, Chiara Pescucci, et al.
Genes|April 23, 2022
Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental DisorderGabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, et al.
Ophthalmic Genetics|September 23, 2021
Novel retinal finding in a patient with 4q12 deletionMario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, et al.
Genes|October 23, 2021
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative GenomicsFrancesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, et al.
International Journal of Molecular Sciences|March 2, 2016
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory DistressValentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, et al.
Journal of Human Genetics|January 20, 2007
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's diseaseTiziana Squillaro, Franca Cambi, Giuseppe Ciacci, et al.
European Journal of Medical Genetics|March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndromeMaria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
Cancer Cell International|November 2, 2019
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysisMaria Palmieri, Margherita Baldassarri, Francesca Fava, et al.
Italian Journal of Pediatrics|November 5, 2017
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infantAlessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, et al.
Pageof 7

Showing results (1-10 of 67) with videos related to

Sort By:
Pageof 7
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 24, 2020
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterizationChiara Romano, Silvia Ferranti, Maria Antonietta Mencarelli, et al.
American Journal of Medical Genetics. Part A|March 14, 2007
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGHMaria Antonietta Mencarelli, Rossella Caselli, Chiara Pescucci, et al.
Genes|April 23, 2022
Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental DisorderGabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, et al.
Ophthalmic Genetics|September 23, 2021
Novel retinal finding in a patient with 4q12 deletionMario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, et al.
Genes|October 23, 2021
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative GenomicsFrancesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, et al.
International Journal of Molecular Sciences|March 2, 2016
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory DistressValentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, et al.
Journal of Human Genetics|January 20, 2007
Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's diseaseTiziana Squillaro, Franca Cambi, Giuseppe Ciacci, et al.
European Journal of Medical Genetics|March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndromeMaria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
Cancer Cell International|November 2, 2019
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysisMaria Palmieri, Margherita Baldassarri, Francesca Fava, et al.
Italian Journal of Pediatrics|November 5, 2017
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infantAlessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, et al.
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