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Mirella Filocamo

Showing results (51-60 of 103) with videos related to

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Nature Genetics|September 20, 2005
Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki, Tetsuya Niihori, Hiroshi Kawame, et al.
Human Molecular Genetics|March 24, 2017
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type IIRoberto Costa, Andrea Urbani, Marika Salvalaio, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander diseaseTiziana Bachetti, Francesco Caroli, Paola Bocca, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Human Mutation|December 18, 2004
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.
European Journal of Haematology|June 3, 2015
A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or ThrombocytopeniaIrene Motta, Mirella Filocamo, Erika Poggiali, et al.
Human Molecular Genetics|April 13, 2018
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)Stefania Bellesso, Marika Salvalaio, Susanna Lualdi, et al.
Cell Death & Disease|June 15, 2018
Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophyGiacomo Frati, Marco Luciani, Vasco Meneghini, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Pageof 11

Showing results (51-60 of 103) with videos related to

Sort By:
Pageof 11
Nature Genetics|September 20, 2005
Germline mutations in HRAS proto-oncogene cause Costello syndromeYoko Aoki, Tetsuya Niihori, Hiroshi Kawame, et al.
Human Molecular Genetics|March 24, 2017
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type IIRoberto Costa, Andrea Urbani, Marika Salvalaio, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander diseaseTiziana Bachetti, Francesco Caroli, Paola Bocca, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Journal of Neurology|April 19, 2018
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutationsMariasavina Severino, Susanna Lualdi, Chiara Fiorillo, et al.
Human Mutation|December 18, 2004
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.
European Journal of Haematology|June 3, 2015
A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or ThrombocytopeniaIrene Motta, Mirella Filocamo, Erika Poggiali, et al.
Human Molecular Genetics|April 13, 2018
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)Stefania Bellesso, Marika Salvalaio, Susanna Lualdi, et al.
Cell Death & Disease|June 15, 2018
Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophyGiacomo Frati, Marco Luciani, Vasco Meneghini, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Pageof 11