Søgeresultater - Vlatka Mejaški‐Bošnjak

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  1. 1
    MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations

    MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations af Kate Himmelmann, Veronka Horber, Javier de la Cruz, Karen Horridge, Vlatka Mejaški‐Bošnjak, Katalin Hollódy, Ingeborg Krägeloh‐Mann

    Udgivet 2016
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    Artigo
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  2. 2
    Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis ofMLC1

    Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis ofMLC1 af P. K. Ilja Boor, Koen de Groot, Vlatka Mejaški‐Bošnjak, Christiana Brenner, Marjo S. van der Knaap, Gert C. Scheper, Jan C. Pronk

    Udgivet 2006
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    Artigo
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  3. 3
    <i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

    <i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism af Ivo Barić, Ksenija Fumić, B. Glenn, Mario Ćuk, Andreas Schulze, James D. Finkelstein, S. Jill James, Vlatka Mejaški‐Bošnjak, Leo Pažanin, Igor P. Pogribny, Marko Radoš, Vladimir Sarnavka, Mira Šćukanec‐Špoljar, Robert H. Allen, Sally P. Stabler, Lidija Uzelac, Oliver Vugrek, Conrad Wagner, Steven H. Zeisel, S. Harvey Mudd

    Udgivet 2004
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    Artigo
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  4. 4
    Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

    Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts af Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen, Joyce Mulders, Andrea A.M. Könst, P. K. Ilja Boor, Vlatka Mejaški‐Bošnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B.M. Oudejans, R. B. H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap

    Udgivet 2001
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    Artigo
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  5. 5
    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement af Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

    Udgivet 2008
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  6. 6
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database af Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben‐Zeev, Mercédes Pineda, Nadia Bahi‐Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martínez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djurić, Anne‐Marie Bisgaard, Kirstine Ravn, Vlatka Mejaški Bošnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, V. Yu. Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Udgivet 2019
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  7. 7
    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study af Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Barić, Matthias Baumann, Luisa Bonafé, B. Chabrol, Joe T.R. Clarke, Peter T. Clayton, Mahmut Çöker, Sarah Cooper, Tzipora C. Falik‐Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoğlu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan M. Lund, Vlatka Mejaški‐Bošnjak, I Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, María Luz Ruiz-Falcó, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo‐Martínez, Mohnish Suri, Jolanta Sykut‐Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey‐Saban, S Vlaho, Julia Vodopiutz, Moacır Wajner, John H. Walter, Claudia Walter-Derbort, Zühal Yapıcı, Dimitrios Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap, Gajja S. Salomons

    Udgivet 2010
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    Revisão
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  8. 8
    Megalencephalic leukoencephalopathy with subcortical cysts

    Megalencephalic leukoencephalopathy with subcortical cysts af Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalçınkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zühal Yapıcı, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap, Hugo Hernán Abarca-Barriga, Samer Abdelrazeq, Gül Serdaroğlu, P. Ian Andrews, Richard Appleton, Lucia Argandoña Palacios, Brenda Banwell, Florian Bauder, Gülçin Benbir Şenel, Tim A. Benke, Susan Blasér, Annette Bley, Cristiana Brenner, Knut Brockmann, Rafael Camino, Coriene E. Catsman‐Berrevoets, Yanick J. Crow, M. A. J. Scott R. Dalton, María de la Luz Arenas‐Sordo, Linda De Meırleır, Ana Isabel Dias, Francis J. DiMario, Maria Alice Donati, Nihal Olgaç Dündar, François Feillet, Maria José Fonseca, Emilio Franzoni, Jeremy L. Freeman, Katsunori Fujii, Soumya Ghosh, Scott Gold, Solange Gril, Barbara Hallinan, Ágnes Herczegfalvi, Jozef Hertecant, Joannie Hui, David Hunt, Parul Jayakar, Bülent Kara, Çiğdem Seher Kasapkara, Gülşen Kocaman, David M. Koeller, Wolfgang Köhler, Alfried Kohlschütter, Marja Koivusalo, Urania Kotzaeridou, Roshan Koul, Ingeborg Krägeloh‐Mann, Ružica Kravljanac, Gerhard Kurlemann, Julian Lara Herguedas, Silvia Laurentino, Richard J. Leventer, Bryan Lynch, Oliver Maier, Sascha Meyer, Olivera Miljanović, José Paulo Monteiro, Ellen Moran, T. Moreno, Jacques Motté, C. D. Moyes, Lakshmi Nagarajan, Marie‐Cécile Nassogne, Slavica Ostojić, P Pietsch, Iliana Porfiri, Sofia Quintas, Maria Belen Ramos, Deborah L. Renaud, Biserka Rešić, Carolina Rivera Nieto, Jutta Rummel, Robert Rusina, Mustafa A. Salih, Sabine Scholl‐Bürgi, Bitten Schönewolf‐Greulich, Snehal Shah, Suvasini Sharma, Gabriella Silvestri, Komudi Siriwardena, Victoria Mok Siu, Anne‐Bine Skytte, Zeyneb Soysal, Carlos Eduardo Speck Martins, Angela Sun, Burak Tatlı

    Udgivet 2018
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