换一批
换一批Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
作者：
Kopajtich, Robert [1]
;
Murayama, Kei [2]
;
Janecke, Andreas R. [3]
;
Haack, Tobias B. [4]
;
Breuer, Maximilian [5]
;
Knisely, A. S. [6]
;
Harting, Inga [7]
;
Ohashi, Toya [8]
;
Okazaki, Yasushi [9]
;
Watanabe, Daisaku [10]
;
Tokuzawa, Yoshimi [11]
;
Kotzaeridou, Urania [12]
;
Koelker, Stefan [13]
;
Sauer, Sven [14]
;
Carl, Matthias [15]
;
Straub, Simon ;
Entenmann, Andreas ;
Gizewski, Elke ;
Feichtinger, Rene G. ;
Mayr, Johannes A. ;
Lackner, Karoline ;
Strom, Tim M. ;
Meitinger, Thomas ;
Mueller, Thomas ;
Ohtake, Akira ;
Hoffmann, Georg F. ;
Prokisch, Holger ;
Staufner, Christian
作者单位：
Univ Heidelberg Hosp, Dept Neuroradiol, D-69120 Heidelberg, Germany
[1]
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
[2]
Med Univ Innsbruck, Dept Pediat 1, A-6020 Innsbruck, Austria
[3]
Med Univ Graz, Inst Pathol, A-8036 Graz, Austria
[4]
Kings Coll Hosp London, Inst Liver Studies, London SE5 9RS, England
[5]
Chiba Childrens Hosp, Dept Metab, Chiba 2660007, Japan
[6]
Paracelsus Med Univ, SALK Salzburg, Dept Paediat, A-5020 Salzburg, Austria
[7]
Saitama Med Univ, Fac Med, Dept Pediat, Moroyama, Saitama 3500495, Japan
[8]
Saitama Med Univ, Div Funct Genom & Syst Med, Res Ctr Genom Med, Saitama 3501241, Japan
[9]
Med Univ Innsbruck, Dept Neuroradiol, A-6020 Innsbruck, Austria
[10]
Kitasato Univ, Sch Vet Med, Dept Large Anim Clin, Towada, Aomori 0348628, Japan
[11]
Univ Heidelberg Hosp, Dept Gen Pediat, Div Neuropediat & Metab Med, D-69120 Heidelberg, Germany
[12]
Heidelberg Univ, Med Fac Mannheim, Dept Cell & Mol Biol, D-68167 Mannheim, Germany
[13]
Jikei Univ, Sch Med, Dept Pediat, Tokyo 1058461, Japan
[14]
Saitama Med Univ, Div Translat Res, Res Ctr Genom Med, Saitama 3501241, Japan
[15]
发布时间
2017-04-06
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The American Journal of Human Genetics
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