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Neuromuscular Disorders : NMD
|
November 3, 2012
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
Alessandra Ferlini, Marcella Neri, Francesca Gualandi
Community Genetics
|
July 9, 2004
Progress in understanding GJB2-linked deafness
Francesca Gualandi, Alessandro Martini, Elisa Calzolari
Handbook of Clinical Neurology
|
August 7, 2024
Early and late complications of hematopoietic stem cell transplantation
Malgorzata Mikulska, Francesca Gualandi, Paola Anserini
Seminars in Pediatric Neurology
|
December 17, 2011
Congenital muscular dystrophies: a brief review
Enrico Bertini, Adele D'Amico, Francesca Gualandi, et al.
The Journal of Biological Chemistry
|
March 22, 2015
Detecting collagen VI in Bethlem myopathy
Patrizia Sabatelli, Francesca Gualandi, Paolo Bonaldo, et al.
Biochemical and Biophysical Research Communications
|
April 20, 2004
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
Niaz Cohen, Paola Rimessi, Francesca Gualandi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 2, 2016
Huntington's disease-like presentation in Spinocerebellar ataxia type 12
Elisabetta Groppo, Annarita Armaroli, Rita Selvatici, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 7, 2025
A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies
Andrea Barp, Luca Maria Neri, Lorenzo Maggi, et al.
Human Mutation
|
January 7, 2012
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
Matteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, et al.
European Journal of Ophthalmology
|
April 24, 2020
A novel mutation of BEST1 gene in Best disease
Claudio Campa, Francesco Parmeggiani, Rossella Spena, et al.
Page
of 17
Search research articles
Search
Showing results (1-10 of 169) with videos related to
Sort By:
Page
of 17
Neuromuscular Disorders : NMD
|
November 3, 2012
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
Alessandra Ferlini, Marcella Neri, Francesca Gualandi
Community Genetics
|
July 9, 2004
Progress in understanding GJB2-linked deafness
Francesca Gualandi, Alessandro Martini, Elisa Calzolari
Handbook of Clinical Neurology
|
August 7, 2024
Early and late complications of hematopoietic stem cell transplantation
Malgorzata Mikulska, Francesca Gualandi, Paola Anserini
Seminars in Pediatric Neurology
|
December 17, 2011
Congenital muscular dystrophies: a brief review
Enrico Bertini, Adele D'Amico, Francesca Gualandi, et al.
The Journal of Biological Chemistry
|
March 22, 2015
Detecting collagen VI in Bethlem myopathy
Patrizia Sabatelli, Francesca Gualandi, Paolo Bonaldo, et al.
Biochemical and Biophysical Research Communications
|
April 20, 2004
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
Niaz Cohen, Paola Rimessi, Francesca Gualandi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 2, 2016
Huntington's disease-like presentation in Spinocerebellar ataxia type 12
Elisabetta Groppo, Annarita Armaroli, Rita Selvatici, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
November 7, 2025
A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies
Andrea Barp, Luca Maria Neri, Lorenzo Maggi, et al.
Human Mutation
|
January 7, 2012
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
Matteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, et al.
European Journal of Ophthalmology
|
April 24, 2020
A novel mutation of BEST1 gene in Best disease
Claudio Campa, Francesco Parmeggiani, Rossella Spena, et al.
Page
of 17