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Biochemical and Biophysical Research Communications
|
November 22, 2005
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene
Monica Traverso, Mauro Malnati, Carlo Minetti, et al.
Journal of Child Neurology
|
May 23, 2003
Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene
Claudio Bruno, Oliviero Sacco, Filippo M Santorelli, et al.
Neuropediatrics
|
May 29, 2019
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation
Marcello Scala, Monica Traverso, Valeria Capra, et al.
The Journal of International Medical Research
|
December 7, 2017
Detection of early nocturnal hypoventilation in neuromuscular disorders
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, et al.
Biochemical and Biophysical Research Communications
|
July 12, 2011
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene
Claudio Bruno, Denise Cassandrini, Fabiana Fattori, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 11, 2020
Anterior chest wall deformities in children with neurofibromatosis type 1
Cristina Chelleri, Vittorio Guerriero, Michele Torre, et al.
Journal of Clinical Medicine
|
March 28, 2024
Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management
Paola Borgia, Gianluca Piccolo, Andrea Santangelo, et al.
Journal of Clinical Medicine
|
December 23, 2023
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1
Noemi Brolatti, Federica Trucco, Marta Ferretti, et al.
The Journal of Molecular Diagnostics : JMD
|
December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography
Annalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.
The American Journal of Pathology
|
November 25, 2003
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases
Federica Sotgia, Gloria Bonuccelli, Carlo Minetti, et al.
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of 19
Search research articles
Search
Showing results (51-60 of 190) with videos related to
Sort By:
Page
of 19
Biochemical and Biophysical Research Communications
|
November 22, 2005
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene
Monica Traverso, Mauro Malnati, Carlo Minetti, et al.
Journal of Child Neurology
|
May 23, 2003
Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene
Claudio Bruno, Oliviero Sacco, Filippo M Santorelli, et al.
Neuropediatrics
|
May 29, 2019
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation
Marcello Scala, Monica Traverso, Valeria Capra, et al.
The Journal of International Medical Research
|
December 7, 2017
Detection of early nocturnal hypoventilation in neuromuscular disorders
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, et al.
Biochemical and Biophysical Research Communications
|
July 12, 2011
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene
Claudio Bruno, Denise Cassandrini, Fabiana Fattori, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 11, 2020
Anterior chest wall deformities in children with neurofibromatosis type 1
Cristina Chelleri, Vittorio Guerriero, Michele Torre, et al.
Journal of Clinical Medicine
|
March 28, 2024
Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management
Paola Borgia, Gianluca Piccolo, Andrea Santangelo, et al.
Journal of Clinical Medicine
|
December 23, 2023
Structured Light Plethysmography for Non-Invasive Assessment of Respiratory Pattern in Spinal Muscular Atrophy Type 1
Noemi Brolatti, Federica Trucco, Marta Ferretti, et al.
The Journal of Molecular Diagnostics : JMD
|
December 5, 2009
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography
Annalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, et al.
The American Journal of Pathology
|
November 25, 2003
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases
Federica Sotgia, Gloria Bonuccelli, Carlo Minetti, et al.
Page
of 19