Search Results - Makowski, Christine

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  1. 1
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    Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,


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  2. 2
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    Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (Author) , Boltshauser, Eugen (Author) , Palmieri, Luigi (Author) , Spenger, Johannes (Author) , Brunner-Krainz, Michaela (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Geis, Tobias (Author) , Gropman, Andrea L. (Author) , Häberle, Johannes (Author) , Hentschel, Julia (Author) , Jeandidier, Bruno (Author) , Karall, Daniela (Author) , Keren, Boris (Author) , Klabunde-Cherwon, Annick (Author) , Konstantopoulou, Vassiliki (Author) , Kottke, Raimund (Author) , Lasorsa, Francesco M. (Author) , Makowski, Christine (Author) , Mignot, Cyril (Author) , O’Gorman Tuura, Ruth (Author) , Porcelli, Vito (Author) , Santer, René (Author) , Sen, Kuntal (Author) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,


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  3. 3
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    Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente (Author) , Gusic, Mirjana (Author) , Kopajtich, Robert (Author) , Mertes, Christian (Author) , Smith, Nicholas H. (Author) , Alston, Charlotte L. (Author) , Ban, Rui (Author) , Beblo, Skadi (Author) , Berutti, Riccardo (Author) , Blessing, Holger (Author) , Ciara, Elzbieta (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Haeberle, Johannes (Author) , Hayflick, Susan J. (Author) , Hempel, Maja (Author) , Itkis, Yulia S. (Author) , Kishita, Yoshihito (Author) , Klopstock, Thomas (Author) , Krylova, Tatiana D. (Author) , Lamperti, Costanza (Author) , Lenz, Dominic (Author) , Makowski, Christine (Author) , Mosegaard, Signe (Author) , Mueller, Michaela F. (Author) , Munoz-Pujol, Gerard (Author) , Nadel, Agnieszka (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Procopio, Elena (Author) , Schwarzmayr, Thomas (Author) , Smet, Joel (Author) , Staufner, Christian (Author) , Stenton, Sarah L. (Author) , Strom, Tim M. (Author) , Terrile, Caterina (Author) , Tort, Frederic (Author) , Van Coster, Rudy (Author) , Vanlander, Arnaud (Author) , Wagner, Matias (Author) , Xu, Manting (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Mayr, Johannes A. (Author) , Piekutowska-Abramczuk, Dorota (Author) , Ribes, Antonia (Author) , Roetig, Agnes (Author) , Taylor, Robert W. (Author) , Wortmann, Saskia B. (Author) , Murayama, Kei (Author) , Meitinger, Thomas (Author) , Gagneur, Julien (Author) , Prokisch, Holger (Author) ,


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  4. 4
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    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,


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  5. 5
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    Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy by Danhauser, Katharina (Author) , Alhaddad, Bader (Author) , Makowski, Christine (Author) , Piekutowska-Abramczuk, Dorota (Author) , Syrbe, Steffen (Author) , Gomez-Ospina, Natalia (Author) , Manning, Melanie A. (Author) , Kostera-Pruszczyk, Anna (Author) , Krahn-Peper, Claudia (Author) , Berutti, Riccardo (Author) ,


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