Search Results - Haack, T. B.

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  1. 1
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    Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum by Verbinnen, Iris (Author) , Douzgou Houge, Sofia (Author) , Hsieh, Tzung-Chien (Author) , Lesmann, Hellen (Author) , Kirchhoff, Aron (Author) , Geneviève, David (Author) , Brimble, Elise (Author) , Lenaerts, Lisa (Author) , Haesen, Dorien (Author) , Levy, Rebecca J. (Author) , Thevenon, Julien (Author) , Faivre, Laurence (Author) , Marco, Elysa (Author) , Chong, Jessica X. (Author) , Bamshad, Mike (Author) , Patterson, Karynne (Author) , Mirzaa, Ghayda M. (Author) , Foss, Kimberly (Author) , Dobyns, William (Author) , White, Susan M. (Author) , Pais, Lynn (Author) , O’Heir, Emily (Author) , Itzikowitz, Raphaela (Author) , Donald, Kirsten A. (Author) , Van der Merwe, Celia (Author) , Mussa, Alessandro (Author) , Cervini, Raffaela (Author) , Giorgio, Elisa (Author) , Roscioli, Tony (Author) , Dias, Kerith-Rae (Author) , Evans, Carey-Anne (Author) , Brown, Natasha J. (Author) , Ruiz, Anna (Author) , Trujillo Quintero, Juan Pablo (Author) , Rabin, Rachel (Author) , Pappas, John (Author) , Yuan, Hai (Author) , Lachlan, Katherine (Author) , Thomas, Simon (Author) , Devlin, Anita (Author) , Wright, Michael (Author) , Martin, Richard (Author) , Karwowska, Joanna (Author) , Posmyk, Renata (Author) , Chatron, Nicolas (Author) , Stark, Zornitza (Author) , Heath, Oliver (Author) , Delatycki, Martin (Author) , Buchert, Rebecca (Author) , Korenke, Georg-Christoph (Author) , Ramsey, Keri (Author) , Narayanan, Vinodh (Author) , Grange, Dorothy K. (Author) , Weisenberg, Judith L. (Author) , Haack, Tobias B. (Author) , Karch, Stephanie (Author) , Kipkemoi, Patricia (Author) , Mangi, Moses (Author) , Bindels de Heus, Karen G. C. B. (Author) , de Wit, Marie-Claire Y. (Author) , Barakat, Tahsin Stefan (Author) , Lim, Derek (Author) , Van Winckel, Géraldine (Author) , Spillmann, Rebecca C. (Author) , Shashi, Vandana (Author) , Jacob, Maureen (Author) , Stehr, Antonia M. (Author) , Krawitz, Peter (Author) , Douzgos Houge, Gunnar (Author) , Janssens, Veerle (Author) ,


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  2. 2
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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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  3. 3
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    PHIP-associated Chung-Jansen syndrome: report of 23 new individuals by Kampmeier, Antje (Author) , Leitão, Elsa (Author) , Parenti, Ilaria (Author) , Beygo, Jasmin (Author) , Depienne, Christel (Author) , Bramswig, Nuria C (Author) , Hsieh, Tzung-Chien (Author) , Afenjar, Alexandra (Author) , Beck-Wödl, Stefanie (Author) , Grasshoff, Ute (Author) , Haack, Tobias B (Author) , Bijlsma, Emilia K (Author) , Ruivenkamp, Claudia (Author) , Lausberg, Eva (Author) , Elbracht, Miriam (Author) , Haanpää, Maria K (Author) , Koillinen, Hannele (Author) , Heinrich, Uwe (Author) , Rost, Imma (Author) , Jamra, Rami Abou (Author) , Popp, Denny (Author) , Koch-Hogrebe, Margarete (Author) , Rostasy, Kevin (Author) , López-González, Vanesa (Author) , Sanchez-Soler, María José (Author) , Macedo, Catarina (Author) , Schmetz, Ariane (Author) , Steinborn, Carmen (Author) , Weidensee, Sabine (Author) , Lesmann, Hellen (Author) , Marbach, Felix (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author) , Krawitz, Peter (Author) , Wieczorek, Dagmar (Author) , Kaiser, Frank J (Author) , Kuechler, Alma (Author) ,


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  4. 4
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    A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children by Scorrano, Giovanna (Author) , D'Onofrio, Gianluca (Author) , Accogli, Andrea (Author) , Severino, Mariasavina (Author) , Buchert, Rebecca (Author) , Kotzaeridou, Urania (Author) , Iapadre, Giulia (Author) , Farello, Giovanni (Author) , Iacomino, Michele (Author) , Dono, Fedele (Author) , Di Francesco, Ludovica (Author) , Fiorile, Maria Francesca (Author) , La Bella, Saverio (Author) , Corsello, Antonio (Author) , Calì, Elisa (Author) , Di Rosa, Gabriella (Author) , Gitto, Eloisa (Author) , Verrotti, Alberto (Author) , Fortuna, Sara (Author) , Soler, Miguel A. (Author) , Chiarelli, Francesco (Author) , Oehl-Jaschkowitz, Barbara (Author) , Haack, Tobias B. (Author) , Zara, Federico (Author) , Striano, Pasquale (Author) , Salpietro, Vincenzo (Author) ,


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  5. 5
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    Transcript-specific loss-of-function variants in VPS16 are enriched in patients with dystonia by Park, Joohyun (Author) , Reilaender, Annemarie (Author) , Petry-Schmelzer, Jan N. (Author) , Stöbe, Petra (Author) , Cordts, Isabell (Author) , Harmuth, Florian (Author) , Rautenberg, Maren (Author) , Woerz, Sarah E. (Author) , Demidov, German (Author) , Sturm, Marc (Author) , Ossowski, Stephan (Author) , Schwaibold, Eva (Author) , Wunderlich, Gilbert (Author) , Paus, Sebastian (Author) , Saft, Carsten (Author) , Haack, Tobias B. (Author) ,


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  6. 6
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    Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by Coenen-Van der Spek, Jet (Author) , den Hoed, Joery (Author) , Snijders Blok, Lot (Author) , Dingemans, Alexander J. M. (Author) , Schijven, Dick (Author) , Nellaker, Christoffer (Author) , Venselaar, Hanka (Author) , Astuti, Galuh D. N. (Author) , Barakat, Tahsin Stefan (Author) , Bebin, E. Martina (Author) , Beck-Wödl, Stefanie (Author) , Beunders, Gea (Author) , Brown, Natasha J. (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Campeau, Philippe M. (Author) , Čuturilo, Goran (Author) , Gilissen, Christian (Author) , Haack, Tobias B. (Author) , Hüning, Irina (Author) , Husain, Ralf A. (Author) , Kamien, Benjamin (Author) , Lim, Sze Chern (Author) , Lovrecic, Luca (Author) , Magg, Janine (Author) , Maver, Ales (Author) , Miranda, Valancy (Author) , Monteil, Danielle C. (Author) , Ockeloen, Charlotte W. (Author) , Pais, Lynn S. (Author) , Plaiasu, Vasilica (Author) , Raiti, Laura (Author) , Richmond, Christopher (Author) , Rieß, Angelika (Author) , Schwaibold, Eva (Author) , Simon, Marleen E. H. (Author) , Spranger, Stephanie (Author) , Tan, Tiong Yang (Author) , Thompson, Michelle L. (Author) , de Vries, Bert B. A. (Author) , Wilkins, Ella J. (Author) , Willemsen, Marjolein H. (Author) , Francks, Clyde (Author) , Vissers, Lisenka E. L. M. (Author) , Fisher, Simon E. (Author) , Kleefstra, Tjitske (Author) ,


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  7. 7
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    De novo missense variants in FBXO11 alter its protein expression and subcellular localization by Gregor, Anne (Author) , Meerbrei, Tanja (Author) , Gerstner, Thorsten (Author) , Toutain, Annick (Author) , Lynch, Sally Ann (Author) , Stals, Karen (Author) , Maxton, Caroline (Author) , Lemke, Johannes R. (Author) , Bernat, John A. (Author) , Bombei, Hannah M. (Author) , Foulds, Nicola (Author) , Hunt, David (Author) , Kuechler, Alma (Author) , Beygo, Jasmin (Author) , Stobe, Petra (Author) , Bouman, Arjan (Author) , Palomares-Bralo, Maria (Author) , Santos-Simarro, Fernando (Author) , Garcia-Minaur, Sixto (Author) , Pacio-Miguez, Marta (Author) , Popp, Bernt (Author) , Vasileiou, Georgia (Author) , Hebebrand, Moritz (Author) , Reis, Andre (Author) , Schuhmann, Sarah (Author) , Krumbiegel, Mandy (Author) , Brown, Natasha J. (Author) , Sparber, Peter (Author) , Melikyan, Lyusya (Author) , Bessonova, Liudmila (Author) , Cherevatova, Tatiana (Author) , Sharkov, Artem (Author) , Shcherbakova, Natalia (Author) , Dabir, Tabib (Author) , Kini, Usha (Author) , Schwaibold, Eva (Author) , Haack, Tobias B. (Author) , Bertoli, Marta (Author) , Hoffjan, Sabine (Author) , Falb, Ruth (Author) , Shinawi, Marwan (Author) , Sticht, Heinrich (Author) , Zweier, Christiane (Author) ,


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  8. 8
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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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  9. 9
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    Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,


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  10. 10
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    Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: expanding the neurological spectrum and therapeutic approaches by Illsinger, Sabine (Author) , Korenke, Christoph (Author) , Boesch, Sylvia (Author) , Nocker, Michael (Author) , Karall, Daniela (Author) , Nuoffer, Jean M. (Author) , Laugwitz, Lucia (Author) , Mayr, Johannes A. (Author) , Scholl-Bürgi, Sabine (Author) , Freisinger, Peter (Author) , Kowald, Tobias (Author) , Kölker, Stefan (Author) , Prokisch, Holger (Author) , Haack, Tobias B. (Author) ,


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  11. 11
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    Citrin deficiency mimicking mitochondrial depletion syndrome by Grünert, Sarah (Author) , Schumann, A. (Author) , Freisinger, P. (Author) , Rosenbaum-Fabian, S. (Author) , Schmidts, M. (Author) , Müller, Amelie Johanna (Author) , Beck-Wödl, S. (Author) , Haack, T. B. (Author) , Schneider, H. (Author) , Fuchs, H. (Author) , Teufel, U. (Author) , Gramer, Gwendolyn (Author) , Hannibal, L. (Author) , Spiekerkötter, Ute (Author) ,


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