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Federica Consoli

Showing results (11-20 of 24) with videos related to

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Stem Cell Research|April 29, 2018
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's DiseaseGiovannina Rotundo, Eris Bidollari, Daniela Ferrari, et al.
Stem Cell Research|February 28, 2018
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stageEris Bidollari, Giovannina Rotundo, Daniela Ferrari, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
European Journal of Medical Genetics|December 29, 2012
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosisM Cristina Digilio, Laura Bernardini, Federica Consoli, et al.
European Journal of Medical Genetics|February 1, 2011
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defectsMarleny Salazar, Federica Consoli, Victoria Villegas, et al.
Stem Cell Research|September 8, 2019
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)Eris Bidollari, Giovannina Rotundo, Filomena Altieri, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
The Lancet. Neurology|September 24, 2018
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysisCaterina Fusilli, Simone Migliore, Tommaso Mazza, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Stem Cell Research|April 29, 2018
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's DiseaseGiovannina Rotundo, Eris Bidollari, Daniela Ferrari, et al.
Stem Cell Research|February 28, 2018
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stageEris Bidollari, Giovannina Rotundo, Daniela Ferrari, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
European Journal of Medical Genetics|December 29, 2012
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosisM Cristina Digilio, Laura Bernardini, Federica Consoli, et al.
European Journal of Medical Genetics|February 1, 2011
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defectsMarleny Salazar, Federica Consoli, Victoria Villegas, et al.
Stem Cell Research|September 8, 2019
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)Eris Bidollari, Giovannina Rotundo, Filomena Altieri, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.
The Lancet. Neurology|September 24, 2018
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysisCaterina Fusilli, Simone Migliore, Tommaso Mazza, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.
Pageof 3