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1دورية أكاديمية
المؤلفون: Caroline Sevin, Samira Hatteb, Aurore Clément, Fabrizia Bignami, Louis Chillotti, Françoise Bugnard, Stève Bénard, Odile Boespflug-Tanguy
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
مصطلحات موضوعية: Adrenoleukodystrophy, CCALD, Epidemiology, Claims, Registry, HSCT, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: Autosomal recessive, Intellectual disability, TRAPPC9, Novel, Sudan, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3دورية أكاديمية
المؤلفون: Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
مصطلحات موضوعية: Metabolism, Neuroscience, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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4دورية أكاديمية
المؤلفون: Sophie Boursange, Marco Araneda, Caroline Stalens, Isabelle Desguerre, Christine Barnerias, Marie-Christine Nougues, Arnaud Isapof, Susana Quijano-Roy, Nadia Blu Genestine, Laetitia Ouillade, Maripaz Martinez Jalilie, Claudia Castiglioni, Odile Boespflug-Tanguy, Marcela Gargiulo, The SMAPAR Study Group
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: dilemmatic decisions, palliative care, parents, caregivers, spinal amyotrophy type 1, SMAPAR Study, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1062390/fullTest; https://doaj.org/toc/2296-2360Test
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5دورية أكاديمية
المؤلفون: Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: pontocerebellar hypoplasia 10, CLP1, Sudan, pontocerebellar hypoplasia, family, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/fullTest; https://doaj.org/toc/1664-8021Test
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6دورية أكاديمية
المؤلفون: Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière
المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-7 (2020)
مصطلحات موضوعية: Vanishing white matter disease, Foetal neuropathology, Whole exome sequencing, Diagnosis, Pathophysiology, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40478-020-00929-2Test; https://doaj.org/toc/2051-5960Test
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7دورية أكاديمية
المؤلفون: Guy Khalaf, Claudia Mattern, Mélina Begou, Odile Boespflug-Tanguy, Charbel Massaad, Liliane Massaad-Massade
المصدر: Biomedicines, Vol 10, Iss 7, p 1709 (2022)
مصطلحات موضوعية: Pelizaeus-Merzbacher disease (PMD), spastic paraplegia (SPG2), diagnosis, proteolipid protein 1 variants, animal models, treatments, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel
المصدر: Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
مصطلحات موضوعية: KIF1C, dystonic tremor, cerebellar ataxia, hypomyelinating leukoencephalopathy, Diseases of the musculoskeletal system, RC925-935, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://tremorjournal.org/index.php/tremor/article/view/657/2327Test; https://doaj.org/toc/2160-8288Test
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9دورية أكاديمية
المؤلفون: Ichraf Kraoua, Adnane Karkar, Cyrine Drissi, Hanene Benrhouma, Hedia Klaa, Simon Samaan, Florence Renaldo, Monique Elmaleh, Mohamed Ben Hamouda, Sonia Abdelhak, Odile Boespflug‐Tanguy, Ilfghem Ben Youssef‐Turki, Imen Dorboz
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
مصطلحات موضوعية: dystonia, hypomyelination, leukodystrophy, myoclonus, POLR1C, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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10دورية أكاديمية
المؤلفون: Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
مصطلحات موضوعية: Charcot‐Marie‐Tooth, hearing loss, neuropathy, NGS, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test