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Acta Bio-Medica : Atenei Parmensis
|
November 10, 2020
Genetic analysis of genes associated with epilepsy
Giulia Guerri, Marco Castori, Leonardo D'Agruma, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
September 7, 2007
Pai syndrome: first patient with agenesis of the corpus callosum and literature review
Marco Castori, Rosanna Rinaldi, Aurelia Bianchi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 29, 2026
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet
Giuseppe d'Orsi, Leonardo D'Agruma, Pietro Palumbo, et al.
Genes
|
June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related Disorders
Carmela Fusco, Silvia Morlino, Lucia Micale, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2011
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
Valeria Serra, Marco Castori, Mauro Paradisi, et al.
European Journal of Dermatology : EJD
|
December 19, 2007
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female
Marco Castori, Silvia Majore, Francesco Romanelli, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2008
Phacomatosis cesioflammea with unilateral lipohypoplasia
Marco Castori, Rosanna Rinaldi, Corrado Angelo, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation
Marco Castori, Silvia Morlino, Francesca Clementina Radio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
November 1, 2014
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome
Silvia Morlino, Marco Castori, Francesca Servadei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 31, 2015
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties
Claudia Celletti, Giorgia Mari, Giulia Ghibellini, et al.
Page
of 24
Search research articles
Search
Showing results (51-60 of 239) with videos related to
Sort By:
Page
of 24
Acta Bio-Medica : Atenei Parmensis
|
November 10, 2020
Genetic analysis of genes associated with epilepsy
Giulia Guerri, Marco Castori, Leonardo D'Agruma, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
September 7, 2007
Pai syndrome: first patient with agenesis of the corpus callosum and literature review
Marco Castori, Rosanna Rinaldi, Aurelia Bianchi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 29, 2026
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet
Giuseppe d'Orsi, Leonardo D'Agruma, Pietro Palumbo, et al.
Genes
|
June 13, 2019
Characterization of Two Novel Intronic Variants Affecting <i>Splicing</i> in <i>FBN1</i>-Related Disorders
Carmela Fusco, Silvia Morlino, Lucia Micale, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2011
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes
Valeria Serra, Marco Castori, Mauro Paradisi, et al.
European Journal of Dermatology : EJD
|
December 19, 2007
Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female
Marco Castori, Silvia Majore, Francesco Romanelli, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2008
Phacomatosis cesioflammea with unilateral lipohypoplasia
Marco Castori, Rosanna Rinaldi, Corrado Angelo, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2013
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation
Marco Castori, Silvia Morlino, Francesca Clementina Radio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
November 1, 2014
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome
Silvia Morlino, Marco Castori, Francesca Servadei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
March 31, 2015
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties
Claudia Celletti, Giorgia Mari, Giulia Ghibellini, et al.
Page
of 24