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Orsetta Zuffardi

Showing results (21-30 of 222) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndromeCamilla Caporali, Sabrina Signorini, Valentina De Giorgis, et al.
Journal of Human Genetics|July 12, 2020
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)Edoardo Errichiello, Guido Zagnoli-Vieira, Romana Rizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 14, 2015
Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrumFederica Natacci, Enrico Alfei, Lucia Tararà, et al.
Epilepsy & Behavior : E&B|November 20, 2012
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literatureGiulia Valvo, Francesca Novara, Paola Brovedani, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked traitMarcella Zollino, Cesare Colosimo, Orsetta Zuffardi, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotypeMaria Clara Bonaglia, Roberto Giorda, Romano Tenconi, et al.
The New England Journal of Medicine|February 28, 2014
PRKACB and Carney complexAntonella Forlino, Annalisa Vetro, Livia Garavelli, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|July 18, 2015
A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous RegionElena Rossi, Orietta Radi, Lisa De Lorenzi, et al.
European Journal of Human Genetics : EJHG|October 26, 2006
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesisGiorgio Gimelli, Stefania Gimelli, Nazzareno Dimasi, et al.
European Journal of Medical Genetics|April 2, 2008
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy manPaolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, et al.
Pageof 23

Showing results (21-30 of 222) with videos related to

Sort By:
Pageof 23
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 4, 2018
Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndromeCamilla Caporali, Sabrina Signorini, Valentina De Giorgis, et al.
Journal of Human Genetics|July 12, 2020
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)Edoardo Errichiello, Guido Zagnoli-Vieira, Romana Rizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 14, 2015
Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrumFederica Natacci, Enrico Alfei, Lucia Tararà, et al.
Epilepsy & Behavior : E&B|November 20, 2012
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literatureGiulia Valvo, Francesca Novara, Paola Brovedani, et al.
American Journal of Medical Genetics. Part A|January 28, 2003
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked traitMarcella Zollino, Cesare Colosimo, Orsetta Zuffardi, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotypeMaria Clara Bonaglia, Roberto Giorda, Romano Tenconi, et al.
The New England Journal of Medicine|February 28, 2014
PRKACB and Carney complexAntonella Forlino, Annalisa Vetro, Livia Garavelli, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|July 18, 2015
A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous RegionElena Rossi, Orietta Radi, Lisa De Lorenzi, et al.
European Journal of Human Genetics : EJHG|October 26, 2006
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesisGiorgio Gimelli, Stefania Gimelli, Nazzareno Dimasi, et al.
European Journal of Medical Genetics|April 2, 2008
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy manPaolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, et al.
Pageof 23