Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency

by Bartłomiej Budny, Katarzyna Karmelita-Katulska, Marek Stajgis, Tomasz Żemojtel, Marek Ruchała, Katarzyna Ziemnicka
Published 2020-08-01

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Published 2016-05-01

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)

by Bartlomiej Budny, Tomasz Zemojtel, Tomasz Zemojtel, Malgorzata Kaluzna, Pawel Gut, Marek Niedziela, Monika Obara-Moszynska, Barbara Rabska-Pietrzak, Katarzyna Karmelita-Katulska, Marek Stajgis, Urszula Ambroziak, Tomasz Bednarczuk, Elzbieta Wrotkowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Marek Ruchala, Katarzyna Ziemnicka
Published 2020-06-01

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

by Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Published 2020-09-01

<i>CLN8</i> Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

by Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
Published 2021-06-01

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

by Joanna Trubicka, Tomasz Żemojtel, Jochen Hecht, Katarzyna Falana, Dorota Piekutowska- Abramczuk, Rafał Płoski, Marta Perek-Polnik, Monika Drogosiewicz, Wiesława Grajkowska, Elżbieta Ciara, Elżbieta Moszczyńska, Bożenna Dembowska-Bagińska, Danuta Perek, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Maria Łastowska
Published 2017-04-01

Detection of TP53 Mutations in Tissue or Liquid Rebiopsies at Progression Identifies ALK+ Lung Cancer Patients with Poor Survival

by Petros Christopoulos, Steffen Dietz, Martina Kirchner, Anna-Lena Volckmar, Volker Endris, Olaf Neumann, Simon Ogrodnik, Claus-Peter Heussel, Felix J. Herth, Martin Eichhorn, Michael Meister, Jan Budczies, Michael Allgäuer, Jonas Leichsenring, Tomasz Zemojtel, Helge Bischoff, Peter Schirmacher, Michael Thomas, Holger Sültmann, Albrecht Stenzinger
Published 2019-01-01

Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells

by Christian H. Gabriel, Marta del Olmo, Amin Zehtabian, Marten Jäger, Silke Reischl, Hannah van Dijk, Carolin Ulbricht, Asylkhan Rakhymzhan, Thomas Korte, Barbara Koller, Astrid Grudziecki, Bert Maier, Andreas Herrmann, Raluca Niesner, Tomasz Zemojtel, Helge Ewers, Adrián E. Granada, Hanspeter Herzel, Achim Kramer
Published 2021-06-01

Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA

by Steffen Dietz, Petros Christopoulos, Zhao Yuan, Arlou Kristina Angeles, Lisa Gu, Anna-Lena Volckmar, Simon J. Ogrodnik, Florian Janke, Chiara Dalle Fratte, Tomasz Zemojtel, Marc A. Schneider, Daniel Kazdal, Volker Endris, Michael Meister, Thomas Muley, Erika Cecchin, Martin Reck, Matthias Schlesner, Michael Thomas, Albrecht Stenzinger, Holger Sültmann
Published 2020-12-01

Multi-Parameter Analysis of Biobanked Human Bone Marrow Stromal Cells Shows Little Influence for Donor Age and Mild Comorbidities on Phenotypic and Functional Properties

by Anastazja Andrzejewska, Anastazja Andrzejewska, Anastazja Andrzejewska, Rusan Catar, Rusan Catar, Janosch Schoon, Janosch Schoon, Janosch Schoon, Taimoor Hasan Qazi, Taimoor Hasan Qazi, Taimoor Hasan Qazi, Frauke Andrea Sass, Frauke Andrea Sass, Frauke Andrea Sass, Dorit Jacobi, Dorit Jacobi, Antje Blankenstein, Antje Blankenstein, Simon Reinke, Simon Reinke, David Krüger, Mathias Streitz, Mathias Streitz, Stephan Schlickeiser, Stephan Schlickeiser, Sarina Richter, Sarina Richter, Naima Souidi, Naima Souidi, Naima Souidi, Christien Beez, Christien Beez, Christien Beez, Julian Kamhieh-Milz, Ulrike Krüger, Tomasz Zemojtel, Karsten Jürchott, Dirk Strunk, Petra Reinke, Petra Reinke, Petra Reinke, Georg Duda, Georg Duda, Georg Duda, Guido Moll, Guido Moll, Guido Moll, Guido Moll, Sven Geissler, Sven Geissler, Sven Geissler
Published 2019-11-01