Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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  • 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
    Rokicki, Dariusz; Pajdowska, Magdalena; Trubicka, Joanna; Meow-Keong Thong; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Pronicki, Maciej; Sikora, Roman; Haidar, Rijad; Oltarzewski, Mariusz; Jablonska, Ewa; Muthukumarasamy, Premala; Sthaneswar, Pavai; Gan, Chin-Seng; Krajewska-Walasek, Malgorzata; Carrozzo, Rosalba; Verrigni, Daniela; Semeraro, Michela; Rizzo, Cristiano; Taurisano, Roberta; Alhaddad, Bader; Kovacs-Nagy, Reka; Haack, Tobias B.; Dionisi-Vici, Carlo; Pronicka, Ewa; Wortmann, Saskia B. (2017)
  • A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
    Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole (2022)
  • A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
    Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
  • BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
    Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Kuechler, Alma; de Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Luedecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Sacoto, Maria J. Guillen; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian (2018)
  • Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
    Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. (2018)
  • Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
    Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus (2022)
  • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
    Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; McCullagh, Gary; Millichap, John J.; Carvill, Gemma L.; Clayton-Smith, Jill; Maher, Eamonn R.; Raymond, F. Lucy; Kurian, Manju A. (2019)
  • Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
    Hengel, Holger; Hannan, Shabab B.; Dyack, Sarah; MacKay, Sara B.; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S.; Alzaidan, Hamad; Alsaif, Hessa S.; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R.; Gleeson, Joseph J.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y., V; Sherr, Elliott H.; Parks, Kendall C.; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A.; Pagnamenta, Alistair T.; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Riess, Angelika; Haack, Tobias B.; Naegele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schoels, Ludger (2021)
  • Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
    Milev, Miroslav P.; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F. E.; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B.; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; van Gassen, Koen L. I.; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A.; Sacher, Michael; van Hasselt, Peter M. (2018)
  • Biallelic loss of function variants inSYT2cause a treatable congenital onset presynaptic myasthenic syndrome
    Donkervoort, Sandra; Mohassel, Payam; Laugwitz, Lucia; Zaki, Maha S.; Kamsteeg, Erik-Jan; Maroofian, Reza; Chao, Katherine R.; Verschuuren-Bemelmans, Corien C.; Horber, Veronka; Fock, Annemarie J. M.; McCarty, Riley M.; Jain, Minal S.; Biancavilla, Victoria; McMacken, Grace; Nalls, Matthew; Voermans, Nicol C.; Elbendary, Hasnaa M.; Snyder, Molly; Cai, Chunyu; Lehky, Tanya J.; Stanley, Valentina; Iannaccone, Susan T.; Foley, A. Reghan; Lochmueller, Hanns; Gleeson, Joseph; Houlden, Henry; Haack, Tobias B.; Horvath, Rita; Bonnemann, Carsten G. (2020)
  • Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
    Habarou, Florence; Hamel, Yamina; Haack, Tobias B.; Feichtinger, Rene G.; Lebigot, Elise; Marquardt, Iris; Busiah, Kanetee; Laroche, Cecile; Madrange, Marine; Grisel, Coraline; Pontoizeau, Clement; Eisermann, Monika; Boutron, Audrey; Chretien, Dominique; Chadefaux-Vekemans, Bernadette; Barouki, Robert; Bole-Feysot, Christine; Nitschke, Patrick; Goudin, Nicolas; Boddaert, Nathalie; Nemazanyy, Ivan; Delahodde, Agnes; Kolker, Stefan; Rodenburg, Richard J.; Korenke, G. Christoph; Meitinger, Thomas; Strom, Tim M.; Prokisch, Holger; Rotig, Agnes; Ottolenghi, Chris; Mayr, Johannes A.; de Lonlay, Pascale (2017)
  • Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
    Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza (2023)
  • Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
    Bodenbender, Jan-Philipp; Marino, Valerio; Bethge, Leon; Stingl, Katarina; Haack, Tobias B. B.; Biskup, Saskia; Kohl, Susanne; Kuehlewein, Laura; Dell'Orco, Daniele; Weisschuh, Nicole (2023)
  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
    Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valerie; Bhatia, Kailash P.; Bierhals, Tatjana; Bosselmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, Perrine; De Wachter, Matthias; Dehghani, Mohammadreza; D'haenens, Erika; Doco-Fenzy, Martine; Gessner, Michaela; Gobert, Cyrielle; Guliyeva, Ulviyya; Haack, Tobias B.; Hammer, Trine B.; Heinrich, Tilman; Hempel, Maja; Herget, Theresia; Hoffmann, Ute; Horvath, Judit; Houlden, Henry; Keren, Boris; Kresge, Christina; Kumps, Candy; Lederer, Damien; Lermine, Alban; Magrinelli, Francesca; Maroofian, Reza; Mehrjardi, Mohammad Yahya Vahidi; Moudi, Mahdiyeh; Mueller, Amelie J.; Oostra, Anna J.; Pletcher, Beth A.; Ros-Pardo, David; Samarasekera, Shanika; Tartaglia, Marco; Van Schil, Kristof; Vogt, Julie; Wassmer, Evangeline; Winkelmann, Juliane; Zaki, Maha S.; Zech, Michael; Lerche, Holger; Radio, Francesca Clementina; Gomez-Puertas, Paulino; Moller, Rikke S.; Tuemer, Zeynep (2022)
  • Blue Diaper Syndrome and PCSK1 Mutations
    Distelmaier, Felix; Herebian, Diran; Atasever, Claudia; Beck-Woedl, Stefanie; Mayatepek, Ertan; Strom, Tim M.; Haack, Tobias B. (2018)
  • Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype
    Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole (2023)
  • Characterization of cognitive impairment in adult polyglucosan body disease
    Zebhauser, Paul Theo; Cordts, Isabell; Hengel, Holger; Haslinger, Bernhard; Lingor, Paul; Akman, Hasan Orhan; Haack, Tobias B.; Deschauer, Marcus (2022)
  • Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
    Vera, Gabriella; Sorlin, Arthur; Delplancq, Geoffroy; Lecoquierre, Francois; Brasseur-Daudruy, Marie; Petit, Florence; Smol, Thomas; Ziegler, Alban; Bonneau, Dominique; Colin, Estelle; Mercier, Sandra; Cogne, Benjamin; Bezieau, Stephane; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Sabatier, Isabelle; Duban-Bedu, Benedicte; Colson, Cindy; Piton, Amelie; Durand, Benjamin; Capri, Yline; Perrin, Laurence; Wiesener, Antje; Zweier, Christiane; Maroofian, Reza; Carroll, Christopher J.; Galehdari, Hamid; Mazaheri, Neda; Callewaert, Bert; Giulianno, Fabienne; Zaafrane-Khachnaoui, Khaoula; Buchert-Lo, Rebecca; Haack, Tobias; Magg, Janine; Riess, Angelika; Blandfort, Maria; Waldmueller, Stephan; Horber, Veronka; Leonardi, Emanuela; Polli, Roberta; Turolla, Licia; Murgia, Alessandra; Frebourg, Thierry; Lebre, Anne Sophie; Nicolas, Gael; Saugier-Veber, Pascale; Guerrot, Anne-Marie (2020)
  • Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
    Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2021)
  • Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant
    Helal, Mayada; Mazaheri, Neda; Shalbafan, Bita; Malamiri, Reza Azizi; Dilaver, Nafi; Buchert, Rebecca; Mohammadiasl, Javad; Golchin, Neda; Sedaghat, Alireza; Mehrjardi, Mohammad Yahya Vahidi; Haack, Tobias B.; Riess, Olaf; Chung, Wendy K.; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza (2018)