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Dalil Hamroun

Showing results (21-30 of 43) with videos related to

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Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Haematologica|May 2, 2024
The initial molecular response predicts the deep molecular response but not treatment-free remission maintenance in a real-world chronic myeloid leukemia cohortSandrine Saugues, Céline Lambert, Elisabeth Daguenet, et al.
Archives of Physical Medicine and Rehabilitation|May 28, 2014
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseasesCarole Vuillerot, Katherine G Meilleur, Minal Jain, et al.
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.
Human Mutation|September 4, 2008
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsMelissa Yana Frédéric, Christine Monino, Christoph Marschall, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Leukemia|August 1, 2025
Evaluating a predictive model of tyrosine kinase inhibitor therapy failure in a European-type cohort: a step towards population-specific toolsSylvain Moinard, Benjamin Lebecque, Tom Lachaise, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Haematologica|May 2, 2024
The initial molecular response predicts the deep molecular response but not treatment-free remission maintenance in a real-world chronic myeloid leukemia cohortSandrine Saugues, Céline Lambert, Elisabeth Daguenet, et al.
Archives of Physical Medicine and Rehabilitation|May 28, 2014
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseasesCarole Vuillerot, Katherine G Meilleur, Minal Jain, et al.
Molecular Genetics and Metabolism|June 27, 2017
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe diseaseConstantinos Papadopoulos, David Orlikowski, Hélène Prigent, et al.
Journal of Inherited Metabolic Disease|June 10, 2020
Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe RegistryClaudio Semplicini, Marie De Antonio, Nadjib Taouagh, et al.
Human Mutation|September 4, 2008
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsMelissa Yana Frédéric, Christine Monino, Christoph Marschall, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Human Mutation|October 17, 2006
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophyChristophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, et al.
Leukemia|August 1, 2025
Evaluating a predictive model of tyrosine kinase inhibitor therapy failure in a European-type cohort: a step towards population-specific toolsSylvain Moinard, Benjamin Lebecque, Tom Lachaise, et al.
Pageof 5