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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Animals remover
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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Feichtinger, René G. ; Oláhová, Monika ; Kishita, Yoshihito ; Garone, Caterina ; Kremer, Laura S. ; Yagi, Mikako ; Uchiumi, Takeshi ; Jourdain, Alexis A. ; Thompson, Kyle ; D’Souza, Aaron R. ; Kopajtich, Robert ; Alston, Charlotte L. ; Koch, Johannes ; Sperl, Wolfgang ; Mastantuono, Elisa ; Strom, Tim M. ; Wortmann, Saskia B. ; Meitinger, Thomas ; Pierre, Germaine ; Chinnery, Patrick F. ; Chrzanowska-Lightowlers, Zofia M. ; Lightowlers, Robert N. ; DiMauro, Salvatore ; Calvo, Sarah E. ; Mootha, Vamsi K. ; Moggio, Maurizio ; Sciacco, Monica ; Comi, Giacomo P. ; Ronchi, Dario ; Murayama, Kei ; Ohtake, Akira ; Rebelo-Guiomar, Pedro ; Kohda, Masakazu ; Kang, Dongchon ; Mayr, Johannes A. ; Taylor, Robert W. ; Okazaki, Yasushi ; Minczuk, Michal ; Prokisch, Holger

American journal of human genetics, 2017-10, Vol.101 (4), p.525-538 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Kopajtich, Robert ; Murayama, Kei ; Janecke, Andreas R. ; Haack, Tobias B. ; Breuer, Maximilian ; Knisely, A.S. ; Harting, Inga ; Ohashi, Toya ; Okazaki, Yasushi ; Watanabe, Daisaku ; Tokuzawa, Yoshimi ; Kotzaeridou, Urania ; Kölker, Stefan ; Sauer, Sven ; Carl, Matthias ; Straub, Simon ; Entenmann, Andreas ; Gizewski, Elke ; Feichtinger, René G. ; Mayr, Johannes A. ; Lackner, Karoline ; Strom, Tim M. ; Meitinger, Thomas ; Müller, Thomas ; Ohtake, Akira ; Hoffmann, Georg F. ; Prokisch, Holger ; Staufner, Christian

American journal of human genetics, 2016-08, Vol.99 (2), p.414-422 [Periódico revisado por pares]

United States: Elsevier Inc

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