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Mirella Filocamo

Showing results (91-100 of 103) with videos related to

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Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Orphanet Journal of Rare Diseases|October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksChiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
JAMA|March 3, 2011
Functional variants of the HMGA1 gene and type 2 diabetes mellitusEusebio Chiefari, Sinan Tanyolaç, Francesco Paonessa, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Human Mutation|March 19, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsRenata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Orphanet Journal of Rare Diseases|October 26, 2016
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksChiara Baldo, Lorena Casareto, Alessandra Renieri, et al.
JAMA|March 3, 2011
Functional variants of the HMGA1 gene and type 2 diabetes mellitusEusebio Chiefari, Sinan Tanyolaç, Francesco Paonessa, et al.
Human Mutation|May 18, 2004
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiencyMaria Pia Cosma, Stefano Pepe, Giancarlo Parenti, et al.
Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Human Mutation|March 19, 2019
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsRenata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, et al.
Pageof 11