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European Journal of Human Genetics : EJHG
|
June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
Camilla Filoni, Anna Caciotti, Laura Carraresi, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
Fortunato Lonardo, Paola Di Natale, Susanna Lualdi, et al.
Orphanet Journal of Rare Diseases
|
September 6, 2013
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
August 7, 2003
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi
Giuliano Mariani, Mirella Filocamo, Fiorina Giona, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
August 31, 2013
99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with Gaucher disease
Paola A Erba, Fabrizio Minichilli, Fiorina Giona, et al.
European Journal of Human Genetics : EJHG
|
March 31, 2016
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Massimiliano Filosto, Massimo Aureli, Barbara Castellotti, et al.
Human Mutation
|
April 23, 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
Raül Santamaria, Helen Michelakakis, Marina Moraitou, et al.
Metabolic Brain Disease
|
August 27, 2014
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Marisol Mirabelli-Badenier, Mariasavina Severino, Barbara Tappino, et al.
Gene
|
December 17, 2013
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy
Laura Lorioli, Martina Cesani, Stefano Regis, et al.
Human Mutation
|
October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
Barbara Tappino, Roberta Biancheri, Matthew Mort, et al.
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of 11
Search research articles
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Showing results (61-70 of 103) with videos related to
Sort By:
Page
of 11
European Journal of Human Genetics : EJHG
|
June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease
Camilla Filoni, Anna Caciotti, Laura Carraresi, et al.
American Journal of Medical Genetics. Part A
|
July 22, 2014
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
Fortunato Lonardo, Paola Di Natale, Susanna Lualdi, et al.
Orphanet Journal of Rare Diseases
|
September 6, 2013
Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
August 7, 2003
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi
Giuliano Mariani, Mirella Filocamo, Fiorina Giona, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
August 31, 2013
99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with Gaucher disease
Paola A Erba, Fabrizio Minichilli, Fiorina Giona, et al.
European Journal of Human Genetics : EJHG
|
March 31, 2016
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Massimiliano Filosto, Massimo Aureli, Barbara Castellotti, et al.
Human Mutation
|
April 23, 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
Raül Santamaria, Helen Michelakakis, Marina Moraitou, et al.
Metabolic Brain Disease
|
August 27, 2014
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
Marisol Mirabelli-Badenier, Mariasavina Severino, Barbara Tappino, et al.
Gene
|
December 17, 2013
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy
Laura Lorioli, Martina Cesani, Stefano Regis, et al.
Human Mutation
|
October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
Barbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Page
of 11