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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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论文共 378 篇作者统计合作学者相似作者

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New findings about neuropathological outcomes in the PKU mouse throughout lifespan
Alessandro Bregalda,Claudia Carducci,Tiziana Pascucci,Patrizia Ambrogini,Stefano Sartini, Francesca Pierigè, Emanuele di Carlo,Elena Fiori,Donald Ielpo, Marica Pagliarini,Vincenzo Leuzzi,Mauro Magnani,
Molecular genetics and metabolismno. 1-2 (2024): 108543-108543
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Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes
Maria Novelli, Manuela Tolve, Vicente Quiroz,Claudia Carducci, Rossella Bove, Giacomina Ricciardi, Kathryn Yang, Filippo Manti,Francesco Pisani,Darius Ebrahimi-Fakhari,Serena Galosi,Vincenzo Leuzzi
Movement disorders clinical practice (2024)
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Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Simone Gasparini,Simona Balestrini, Luigi Francesco Saccaro, Giacomo Bacci, Giorgia Panichella,Martino Montomoli, Gaetano Cantalupo,Stefania Bigoni,Giorgia Mancano,Simona Pellacani,Vincenzo Leuzzi,Nila Volpi,
American journal of medical genetics. Part C, Seminars in medical geneticspp.e32099-e32099, (2024)
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Patient selection considerations for AADC deficiency gene therapy
Agathe Roubertie,Irina Anselm, Bruria Ben‐Zeev,Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone,Shin‐ichi Muramatsu,Vincenzo Leuzzi,Salvador Ibáñez,Scellig Stone,Phillip L. Pearl
Annals of the Child Neurology Societyno. 1 (2024): 53-59
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Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies
Jana Dominguez Carral,Carola Reinhard, Darius Ebrahimi-Fakhari,Nathalie Dorison, Serena Galosi,Giacomo Garone, Masa Malenica, Claudia Ravelli,Esra Serdaroglu,Laura A. van de Pol, Anne Koy,Vincenzo Leuzzi,
FRONTIERS IN NEUROLOGY (2024): 1403815-1403815
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New findings about neuropathological outcomes in the PKU mouse throughout lifespan
Alessandro Bregalda,Claudia Carducci,Tiziana Pascucci,Patrizia Ambrogini, Stefano Sartini, Francesca Pierigè, Emanuele di Carlo,Elena Fiori,Donald Ielpo, Marica Pagliarini,Vincenzo Leuzzi, Mauro Magnani,
Molecular Genetics and Metabolismpp.108543, (2024)
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