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المؤلفون: Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, Björn Fischer-Zirnsak
المصدر: Genetics in Medicine. 24:1927-1940
مصطلحات موضوعية: Alternative Splicing, Lipodystrophy, Developmental Disabilities, RNA Splicing, Medizin, Humans, RNA-Binding Proteins, Child, Introns, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757c26002f39f2be33630ad4c51a8dcTest
https://doi.org/10.1016/j.gim.2022.05.004Test -
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المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test -
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المؤلفون: Juliette Dupont
المصدر: Migrations Société. :29-42
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3756cfa13e2261e1f2144b6859f9c92Test
https://doi.org/10.3917/migra.186.0029Test -
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المؤلفون: Alexandru Tatomir, Juliette Dupont Pochat Baron, Jacqueline Bouchet, Timour Vitte, Sébastien Marcel, Jérémie Papassin
المصدر: Revue Neurologique. 179:S3-S4
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::008f5f2be234c0678f6d89327af9a958Test
https://doi.org/10.1016/j.neurol.2023.01.005Test -
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المؤلفون: Raquel Gouveia Silva, Juliette Dupont, Eduardo Silva, Ana Berta Sousa
مصطلحات موضوعية: Ophthalmology, Phenotype, Optic Nerve Hypoplasia, HDE OFT, Pediatrics, Perinatology and Child Health, F-Box Proteins* / genetics, Intellectual Disability* / genetics, Humans, Muscle Hypotonia, Protein-Arginine N-Methyltransferases / genetics, Eye Abnormalities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3cb43fb0349f78f42ff533933847af7Test
https://hdl.handle.net/10400.17/4479Test -
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المؤلفون: Ana Berta Sousa, Juliette Dupont, Catarina Machado, Patrícia Lipari Pinto, Patrícia Janeiro, Ana Gaspar, Sofia Quintas
المصدر: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)
JIMD Reportsمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Case Report, global developmental delay, Case Reports, congenital disorders of deglycosylation, Biochemistry, Genetics and Molecular Biology (miscellaneous), Alacrima, lcsh:Diseases of the endocrine glands. Clinical endocrinology, whole exome sequencing, Internal Medicine, medicine, NGLY1, Global developmental delay, Cervical dystonia, Exome sequencing, lcsh:RC648-665, business.industry, medicine.disease, Hypotonia, dyskinesia, lcsh:Genetics, Dyskinesia, medicine.symptom, business, Congenital disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60862f756fd7f594061dbc2038b631bTest
https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1Test -
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المؤلفون: Juliette Dupont
المصدر: Politique européenne. :122-147
مصطلحات موضوعية: Sociology and Political Science, Political Science and International Relations
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f33f834ba2982e555b86479339ac7f93Test
https://doi.org/10.3917/poeu.065.0122Test -
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المؤلفون: Aida M. Bertoli-Avella, José Pedro Vieira, Ana Berta Sousa, Juliette Dupont, Ana Lisa Taylor Tavares, Carla Conceição, Suliman Khan
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Aplasia/Hypoplasia, Developmental Disabilities, Hearing Loss, Sensorineural, Keratoconjunctivitis, Dwarfism, Nerve Tissue Proteins, HDE NEU PED, Congenital cranial dysinnervation disorder, Vestibulo-cochlear nerve aplasia, 030105 genetics & heredity, 03 medical and health sciences, Intellectual Disability, NEUROG1, Oromotor dysfunction, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Trigeminal Nerve, Corneal reflex, Child, Cochlear Nerve, Genetics (clinical), Loss function, business.industry, Cranial nerves, Sensorineural deafness, medicine.disease, Hypoplasia, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, HDE NRAD, Atresia, Muscle Hypotonia, Sensorineural hearing loss, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1917920b05803f89457674d8a524a2e9Test
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المؤلفون: Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Maria de Lurdes Sampaio, Brígida Robalo, Carla Pereira
المصدر: Case Reports in Pediatrics
Case Reports in Pediatrics, Vol 2019 (2019)مصطلحات موضوعية: Delayed puberty, 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, lcsh:RJ1-570, Chromosome, lcsh:Pediatrics, Case Report, General Medicine, medicine.disease, Short stature, Isodicentric y, 03 medical and health sciences, 0302 clinical medicine, Sex Orientation, 030220 oncology & carcinogenesis, Turner syndrome, medicine, Etiology, Outpatient clinic, medicine.symptom, business, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a40d618e737a3c00b788bf5aba6d7fTest
https://doi.org/10.1155/2019/8563095Test -
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المؤلفون: Aida M. Bertoli-Avella, Suliman Khan, Ana Lisa Taylor Tavares, Carla Conceição, Ana Berta Sousa, Juliette Dupont, José Pedro Vieira
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2dc72e321ebcc586a4a088798edc54d6Test
https://doi.org/10.1111/cge.13922/v2/response1Test