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المؤلفون: Leila Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi, Hella Sassi, Sana Kmiha, Fatma Charfi, Dorra El Guiche, Raoudha Kebaïli, Nesrine Jaballah, Maroua Rjeb, Noura Zouari, Yasmina El Aribi, Syrine Hizem, Salmen Wannes, Ibtihel Fkih Romdhane, Mohamed Tahar Sfar, Hechmi Ben Hamouda, Radhia Hadj Salem, Zied Khlayfia, Tarek Khmiss, Kamel Monastiri, Nadia Siala, Slaheddine Chouchane, Habib Souaa, Inès Khochtali, Bahri Mahjoub, Habib Sfar, Lamia Ben Jemâa, Saoussen Abroug, Lamia Boughamoura, Inès Kamoun, Thouraya Kamoun, Ridha Mrad, Saayda Ben Becher
المصدر: Journal of Pediatric Endocrinology and Metabolism.
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b15567b24b1ac497acfb79bc72641173Test
https://doi.org/10.1515/jpem-2022-0360Test -
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المؤلفون: Madiha Trabelsi, Caroline Beugnet, Nathalie Deburgrave, Virgine Commere, Lucie Orhant, France Leturcq, Jamel Chelly
المصدر: Neuromuscular Disorders. 24:1111-1117
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, RNA Splicing, DNA Mutational Analysis, medicine.disease_cause, Frameshift mutation, Dystrophin, Exon, medicine, Humans, splice, RNA, Messenger, Muscular dystrophy, Genetics (clinical), Genetics, Mutation, biology, Intron, Exons, Middle Aged, medicine.disease, Introns, Muscular Dystrophy, Duchenne, Neurology, Pediatrics, Perinatology and Child Health, RNA splicing, biology.protein, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed7e03e7af4f8b0379af93d72a3c7e2Test
https://doi.org/10.1016/j.nmd.2014.07.003Test -
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المؤلفون: Niloufar Kavian, Fatma Daoud, Nathalie Deburgrave, Caroline Beugnet, Jamel Chelly, Aurélie Vasson, Jean Claude Kaplan, Stéphane Llense, Madiha Trabelsi, Jean Claude Barbot, Virginie Commere
المصدر: European Journal of Human Genetics. 16:793-803
مصطلحات موضوعية: Male, Heterozygote, Genotype, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Biology, Compound heterozygosity, Muscular Dystrophies, Exon, Chromosome Segregation, Sarcoglycans, Gene duplication, Genetics, medicine, Humans, Muscular dystrophy, Genotyping, Alleles, Genetics (clinical), Sequence Deletion, SGCA, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Exons, medicine.disease, Molecular biology, Pedigree, Sarcoglycanopathy, Gene Expression Regulation, Mutation, Female, Sarcoglycanopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9000827b13eba487d71ccdd17d62050Test
https://doi.org/10.1038/ejhg.2008.9Test -
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المؤلفون: Ridha, Mrad, Imen, Dorboz, Lamia, Ben Jemaa, Faouzi, Maazoul, Madiha, Trabelsi, Meriem, Chaabouni, Brahim, Mlaiki, Nakjoua, Miladi, Faycel, Hentati, Habiba, Chaabouni
المصدر: La Tunisie medicale. 84(8)
مصطلحات موضوعية: Cohort Studies, Muscular Atrophy, Spinal, Tunisia, Homozygote, Humans, RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Exons, Cyclic AMP Response Element-Binding Protein, Survival of Motor Neuron 1 Protein, Gene Deletion, Neuronal Apoptosis-Inhibitory Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5598e64e7a1af2568476f71f9adb49a9Test
https://pubmed.ncbi.nlm.nih.gov/17175684Test