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Alessandra Terracciano

Showing results (1-10 of 49) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 13, 2005
Fragile X syndromeAlessandra Terracciano, Pietro Chiurazzi, Giovanni Neri
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2012
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twinsClaudia Castiglioni, Isabel López, Florence Riant, et al.
Clinical Case Reports|April 22, 2026
Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B GeneAdalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 familyElisabetta Tabolacci, M Grazia Pomponi, Roberta Pietrobono, et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology|February 28, 2012
Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiencyIsabella Giovannoni, Alessandra Terracciano, Fabrizio Gennari, et al.
Pharmacogenetics and Genomics|July 16, 2008
Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylationElisabetta Tabolacci, Ivana De Pascalis, Maria Accadia, et al.
Oncotarget|October 10, 2015
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesisClaudia Compagnucci, Stefania Petrini, Norimichi Higuraschi, et al.
Seizure|January 30, 2014
Occipital seizures induced by intermittent photic stimulation in Dravet syndromeNicola Specchio, Giuseppe Pontrelli, Domenico Serino, et al.
Epilepsia|April 8, 2015
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsyMarina Trivisano, Alessandra Terracciano, Teresa Milano, et al.
Genes|May 25, 2024
A Novel <i>COL4A5</i> Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney DiseaseLudovico Graziani, Chiara Minotti, Miriam Lucia Carriero, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 13, 2005
Fragile X syndromeAlessandra Terracciano, Pietro Chiurazzi, Giovanni Neri
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 28, 2012
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twinsClaudia Castiglioni, Isabel López, Florence Riant, et al.
Clinical Case Reports|April 22, 2026
Prenatal Diagnosis of Renal Anomalies Associated With a Novel Causative Variant in RAP1B GeneAdalgisa Cordisco, Stefania Magliulo, Chiara Di Marco, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 familyElisabetta Tabolacci, M Grazia Pomponi, Roberta Pietrobono, et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology|February 28, 2012
Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiencyIsabella Giovannoni, Alessandra Terracciano, Fabrizio Gennari, et al.
Pharmacogenetics and Genomics|July 16, 2008
Modest reactivation of the mutant FMR1 gene by valproic acid is accompanied by histone modifications but not DNA demethylationElisabetta Tabolacci, Ivana De Pascalis, Maria Accadia, et al.
Oncotarget|October 10, 2015
Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesisClaudia Compagnucci, Stefania Petrini, Norimichi Higuraschi, et al.
Seizure|January 30, 2014
Occipital seizures induced by intermittent photic stimulation in Dravet syndromeNicola Specchio, Giuseppe Pontrelli, Domenico Serino, et al.
Epilepsia|April 8, 2015
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsyMarina Trivisano, Alessandra Terracciano, Teresa Milano, et al.
Genes|May 25, 2024
A Novel <i>COL4A5</i> Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney DiseaseLudovico Graziani, Chiara Minotti, Miriam Lucia Carriero, et al.
Pageof 5