Auflistung 7 Mathematisch-Naturwissenschaftliche Fakultät nach Autor "Haack, Tobias"

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Auflistung 7 Mathematisch-Naturwissenschaftliche Fakultät nach Autor "Haack, Tobias"

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  • 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)
  • 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)
  • Genomes in clinical care
    Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schuetz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias (2024)
  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • 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)
  • Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
    Menzel, Michael; Ossowski, Stephan; Kral, Sebastian; Metzger, Patrick; Horak, Peter; Marienfeld, Ralf; Boerries, Melanie; Wolter, Steffen; Ball, Markus; Neumann, Olaf; Armeanu-Ebinger, Sorin; Schroeder, Christopher; Matysiak, Uta; Goldschmid, Hannah; Schipperges, Vincent; Fuerstberger, Axel; Allgaeuer, Michael; Eberhardt, Timo; Niewoehner, Jakob; Blaumeiser, Andreas; Ploeger, Carolin; Haack, Tobias Bernd; Tay, Timothy Kwang Yong; Kelemen, Olga; Pauli, Thomas; Kirchner, Martina; Kluck, Klaus; Ott, Alexander; Renner, Marcus; Admard, Jakob; Gschwind, Axel; Lassmann, Silke; Kestler, Hans; Fend, Falko; Illert, Anna Lena; Werner, Martin; Moeller, Peter; Seufferlein, Thomas Theodor Werner; Malek, Nisar; Schirmacher, Peter; Froehling, Stefan; Kazdal, Daniel; Budczies, Jan; Stenzinger, Albrecht (2023)