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Genes
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June 26, 2025
Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series
Giuseppina Miele, Irene Russo, Lorenzo Filipponi, et al.
International Journal of Molecular Sciences
|
June 10, 2023
Alu-Mediated Insertions in the <i>DMD</i> Gene: A Difficult Puzzle to Interpret Clinically
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, et al.
Human Gene Therapy
|
February 23, 2013
Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy
Ida Luisa Rotundo, Alessio Lancioni, Marco Savarese, et al.
Genes
|
January 26, 2021
Linked-Read Whole Genome Sequencing Solves a Double <i>DMD</i> Gene Rearrangement
Maria Elena Onore, Annalaura Torella, Francesco Musacchia, et al.
Neuropsychiatric Disease and Treatment
|
January 31, 2014
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature
Renata Conforti, Mario Cirillo, Valeria Marrone, et al.
Kidney & Blood Pressure Research
|
June 26, 2025
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care
Floriana Secondulfo, Francesca Del Vecchio Blanco, Giovanna Capolongo, et al.
Genes
|
January 21, 2023
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Emanuela Viggiano, Esther Picillo, Luigia Passamano, et al.
European Journal of Medical Genetics
|
March 16, 2021
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
Claudia Santoro, Simona Riccio, Federica Palladino, et al.
Human Genetics
|
January 11, 2003
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family
Giulio Piluso, Massimo Carella, Michele D'Avanzo, 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.
Page
of 9
Search research articles
Search
Showing results (21-30 of 90) with videos related to
Sort By:
Page
of 9
Genes
|
June 26, 2025
Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series
Giuseppina Miele, Irene Russo, Lorenzo Filipponi, et al.
International Journal of Molecular Sciences
|
June 10, 2023
Alu-Mediated Insertions in the <i>DMD</i> Gene: A Difficult Puzzle to Interpret Clinically
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, et al.
Human Gene Therapy
|
February 23, 2013
Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy
Ida Luisa Rotundo, Alessio Lancioni, Marco Savarese, et al.
Genes
|
January 26, 2021
Linked-Read Whole Genome Sequencing Solves a Double <i>DMD</i> Gene Rearrangement
Maria Elena Onore, Annalaura Torella, Francesco Musacchia, et al.
Neuropsychiatric Disease and Treatment
|
January 31, 2014
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature
Renata Conforti, Mario Cirillo, Valeria Marrone, et al.
Kidney & Blood Pressure Research
|
June 26, 2025
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care
Floriana Secondulfo, Francesca Del Vecchio Blanco, Giovanna Capolongo, et al.
Genes
|
January 21, 2023
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Emanuela Viggiano, Esther Picillo, Luigia Passamano, et al.
European Journal of Medical Genetics
|
March 16, 2021
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
Claudia Santoro, Simona Riccio, Federica Palladino, et al.
Human Genetics
|
January 11, 2003
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family
Giulio Piluso, Massimo Carella, Michele D'Avanzo, 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.
Page
of 9