Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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  • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
    Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M. (2023)
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix (2022)
  • Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
    Kozich, Viktor; Schwahn, Bernd C.; Sokolova, Jitka; Krizkova, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Krizek, Tomas; Vaculikova-Fantlova, Tereza; Stiburkova, Blanka; Mills, Philippa; Clayton, Peter; Barvikova, Kristyna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; Garcia-Cazorla, Angeles; Haack, Tobias B.; Honzik, Tomas; Jesina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, Rene; Schwarz, Guenter; Nagy, Peter (2022)
  • Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
    Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute (2021)
  • Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
    Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria (2021)
  • Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
    van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske (2022)
  • KCNC1-related disorders: new de novo variants expand the phenotypic spectrum
    Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Hermann, Andreas; Cremer, Kirsten; Haberlandt, Edda; Grimmel, Mona; Alhaddad, Bader; Beck-Woedl, Stefanie; Harrer, Merle; Karall, Daniela; Kingelhoefer, Lisa; Tzschach, Andreas; Matthies, Lars C.; Strom, Tim M.; Ringelstein, Erich Bernd; Sturm, Marc; Engels, Hartmut; Wolff, Markus; Lerche, Holger; Haack, Tobias B. (2019)
  • Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
    Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias; Bürger, Friederike; Haas, Dorothea; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)
  • MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
    Reid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B.; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R.; Scott, Richard H.; Vandenberg, Robert J.; Raymond, F. Lucy; Chong, Wui K.; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E.; Campeau, Philippe M.; Harvey, Robert J.; Kurian, Manju A. (2022)
  • Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa
    Avesani, Anna; Bielefeld, Laura; Weisschuh, Nicole; Marino, Valerio; Mazzola, Pascale; Stingl, Katarina; Haack, Tobias B.; Koch, Karl-Wilhelm; Dell'Orco, Daniele (2022)
  • Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
    Tiong Yang Tan; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J.; Strauss, Kevin A.; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A.; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G.; Economides, Aris; Overton, John D.; Mayne, Valerie; Simm, Peter J.; Jones, Bryn O.; Eggers, Stefanie; Le Guyader, Gwenael; Pelluard, Fanny; Haack, Tobias B.; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L.; Farlie, Peter G. (2017)
  • Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
    Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schuetze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B.; Zittel, Simone (2022)
  • Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms
    Weisschuh, Nicole; Marino, Valerio; Schaeferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B.; Dell'Orco, Daniele (2022)
  • Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
    Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; Van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Peter K. C.; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. (2017)
  • Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
    Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmueller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M. (2019)
  • Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
    Iuso, Arcangela; Wiersma, Marit; Schueller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A.; Okun, Juergen G.; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C.; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger; Haack, Tobias B.; Brundel, Bianca J. J. M.; Haas, Dorothea; Sibon, Ody C. M.; Anikster, Yair (2018)
  • Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum
    Krenn, Martin; Salzer, Elisabeth; Simonitsch-Klupp, Ingrid; Rath, Jakob; Wagner, Matias; Haack, Tobias B.; Strom, Tim M.; Schaenzer, Anne; Kilimann, Manfred W.; Schmidt, Ralf L. J.; Schmetterer, Klaus G.; Zimprich, Alexander; Boztug, Kaan; Hahn, Andreas; Zimprich, Fritz (2018)
  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
    Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; van de Warrenburg, Bart P.; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli; Synofzik, Matthis (2021)
  • Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
    Charif, Majida; Nasca, Alessia; Thompson, Kyle; Gerber, Sylvie; Makowski, Christine; Mazaheri, Neda; Bris, Celine; Goudenege, David; Legati, Andrea; Maroofian, Reza; Shariati, Gholamreza; Lamantea, Eleonora; Hopton, Sila; Ardissone, Anna; Moroni, Isabella; Giannotta, Melania; Siegel, Corinna; Strom, Tim M.; Prokisch, Holger; Vignal-Clermont, Catherine; Derrien, Sabine; Zanlonghi, Xavier; Kaplan, Josseline; Hamel, Christian P.; Leruez, Stephanie; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal; White, Frances E.; Hardy, Steven A.; Barbosa, Ines A.; Simpson, Michael A.; Vara, Roshni; Trujillo, Yaumara Perdomo; Galehdari, Hamind; Deshpande, Charu; Rozet, Jean-Michel; Taylor, Robert W.; Ghezzi, Daniele; Amati-Bonneau, Patrizia; Lenaers, Guy; Haack, Tobias (2018)
  • Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
    Glasgow, Ruth I. C.; Thompson, Kyle; Barbosa, Ines A.; He, Langping; Alston, Charlotte L.; Deshpande, Charu; Simpson, Michael A.; Morris, Andrew A. M.; Neu, Axel; Loebel, Ulrike; Hall, Julie; Prokisch, Holger; Haack, Tobias B.; Hempel, Maja; McFarland, Robert; Taylor, Robert W. (2017)