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Human Genomics
|
April 21, 2011
Lysosomal storage disorders: molecular basis and laboratory testing
Mirella Filocamo, Amelia Morrone
Italian Journal of Pediatrics
|
November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Mirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
Heart Failure Clinics
|
March 12, 2018
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials
Niccolò Maurizi, Enrico Ammirati, Raffaele Coppini, et al.
Muscle & Nerve
|
January 28, 2003
Severe prognosis in a large family with hypokalemic periodic paralysis
Anna Caciotti, Amelia Morrone, Raffaele Domenici, et al.
ACS Medicinal Chemistry Letters
|
April 19, 2019
Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease
Francesca Clemente, Camilla Matassini, Andrea Goti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Lorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
Frontiers in Pediatrics
|
July 25, 2022
Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant
Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, et al.
Giornale Italiano Di Cardiologia (2006)
|
November 17, 2015
[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]
Federico Pieruzzi, Maurizio Pieroni, Elisabetta Zachara, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|
August 8, 2015
[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy]
Renzo Mignani, Maurizio Gallieni, Sandro Feriozzi, et al.
Human Genetics
|
March 20, 2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient
Anna Caciotti, Tiziana Bardelli, John Cunningham, et al.
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of 12
Search research articles
Search
Showing results (1-10 of 116) with videos related to
Sort By:
Page
of 12
Human Genomics
|
April 21, 2011
Lysosomal storage disorders: molecular basis and laboratory testing
Mirella Filocamo, Amelia Morrone
Italian Journal of Pediatrics
|
November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Mirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
Heart Failure Clinics
|
March 12, 2018
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials
Niccolò Maurizi, Enrico Ammirati, Raffaele Coppini, et al.
Muscle & Nerve
|
January 28, 2003
Severe prognosis in a large family with hypokalemic periodic paralysis
Anna Caciotti, Amelia Morrone, Raffaele Domenici, et al.
ACS Medicinal Chemistry Letters
|
April 19, 2019
Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease
Francesca Clemente, Camilla Matassini, Andrea Goti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 4, 2015
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
Lorenzo Ferri, Catia Cavicchi, Agata Fiumara, et al.
Frontiers in Pediatrics
|
July 25, 2022
Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant
Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, et al.
Giornale Italiano Di Cardiologia (2006)
|
November 17, 2015
[Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management]
Federico Pieruzzi, Maurizio Pieroni, Elisabetta Zachara, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia
|
August 8, 2015
[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy]
Renzo Mignani, Maurizio Gallieni, Sandro Feriozzi, et al.
Human Genetics
|
March 20, 2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient
Anna Caciotti, Tiziana Bardelli, John Cunningham, et al.
Page
of 12