Αποτελέσματα αναζήτησης - Davor Lessel

Περιορισμός αποτελεσμάτων
  1. 1
    Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity

    Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity από Marjo-Riitta Puumalainen, Davor Lessel, Peter Rüthemann, Nina Kaczmarek, Karin Bachmann, Kristijan Ramadan, Hanspeter Naegeli

    Έκδοση 2014
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder από Frederike L. Harms, Katja Kloth, Annette Bley, Jonas Denecke, René Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche

    Έκδοση 2018
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation

    Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation από Lina Merkens, Verena Sailer, Davor Lessel, Ella Janzen, Sarah Greimeier, Jutta Kirfel, Sven Perner, Klaus Pantel, Stefan Werner, Gunhild von Amsberg

    Έκδοση 2022
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures

    <i><scp>CTC</scp>1</i> mutations in a Brazilian family with progeroid features and recurrent bone fractures από Forough Sargolzaeiaval, Jiaming Zhang, Jennifer Schleit, Davor Lessel, Christian Kubisch, Débora Rossi Precioso, David Sillence, Fuki M. Hisama, Michael O. Dorschner, George M. Martin, Junko Oshima

    Έκδοση 2018
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A

    Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A από Fuki M. Hisama, Davor Lessel, Dru F. Leistritz, Katrin Friedrich, Kim L. McBride, Matthew Pastore, Gary S. Gottesman, Bidisha Saha, George M. Martin, Christian Kubisch, Junko Oshima

    Έκδοση 2011
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

    SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication από Swagata Halder, Ignacio Torrecilla, Martin D. Burkhalter, Marta Popović, John Fielden, Bruno Vaz, Judith Oehler, Domenic Pilger, Davor Lessel, Katherine Wiseman, Abhay Narayan Singh, Iolanda Vendrell, Román Fischer, Melanie Philipp, Kristijan Ramadan

    Έκδοση 2019
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy από Shehrazade Dahimène, Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel, Kjara S. Pilch, Ivan Kadurin, Wendy S. Pratt, Igor B. Zhulin, Hongzheng Dai, Maja Hempel, Maura Ruzhnikov, Kerstin Kutsche, Annette Dolphin

    Έκδοση 2022
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    <i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

    <i>POLD1</i>Germline Mutations in Patients Initially Diagnosed with Werner Syndrome από Davor Lessel, Fuki M. Hisama, Katalin Szakszon, Bidisha Saha, Alexander Barrios Sanjuanelo, Bonnie Anne Salbert, Pamela D. Steele, Jennifer Baldwin, W. Ted Brown, C Piussan, Henri Plauchu, Judit Szilvássy, Edit Horkay, Josef Högel, George M. Martin, Alan J. Herr, Junko Oshima, Christian Kubisch

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities από Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjærsgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes R. Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping από Felix Marbach, Cecilie F. Rustad, Angelika Rieß, Dejan Đukić, Tzung‐Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter Krawitz, Davor Lessel, Christian Netzer

    Έκδοση 2019
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment από Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel

    Έκδοση 2015
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    Dysfunction of the MDM2/p53 axis is linked to premature aging

    Dysfunction of the MDM2/p53 axis is linked to premature aging από Davor Lessel, Danyi Wu, Carlos Trujillo, Thomas Ramezani, Ivana Lessel, Mohammad Khalid Alwasiyah, Bidisha Saha, Fuki M. Hisama, Katrin Rading, Ingrid Goebel, Petra Schütz, Günter Speit, Josef Högel, Hölger Thiele, Gudrun Nürnberg, Peter Nürnberg, Matthias Hammerschmidt, Yan Zhu, David Tong, Chen Katz, George M. Martin, Junko Oshima, Carol Prives, Christian Kubisch

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations από Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María José García-F-Villalta, Carolien M. Kets, Joerg Schmidtke, Vítor Tedim Cruz, Peter C. van den Akker, Joseph Boak, Dincy Peter, Goli Compoginis, Kıvanç Çefle, Şükrü Öztürk, Norberto López, Theda Wessel, Martin Poot, P.F. Ippel, Birgit Groff-Kellermann, Holger Hoehn, George M. Martin, Christian Kubisch, Junko Oshima

    Έκδοση 2010
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology από Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre‐Giovannoli

    Έκδοση 2020
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (<i>CHEK2</i>) With Susceptibility to Testicular Germ Cell Tumors

    Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (<i>CHEK2</i>) With Susceptibility to Testicular Germ Cell Tumors από Saud H. AlDubayan, Louise C. Pyle, Marija Gamulin, Tomislav Kuliš, Nathanael D. Moore, Amaro Taylor‐Weiner, Anis Hamid, Brendan Reardon, Bradley Wubbenhorst, Rama Godse, David J. Vaughn, Linda A. Jacobs, Stefanie Meien, Mislav Grgić, Željko Kaštelan, Sarah C. Markt, Scott M. Damrauer, Daniel J. Rader, Rachel L. Kember, Jennifer T. Loud, Peter A. Kanetsky, Mark H. Greene, Christopher J. Sweeney, Christian Kubisch, Katherine L. Nathanson, Eliezer M. Van Allen, Douglas R. Stewart, Davor Lessel

    Έκδοση 2019
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  16. 16
    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

    <i>WRN</i>Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects από Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Aki Watanabe, Naoko Koizumi, Davor Lessel, Takayasu Mori, Fuki M. Hisama, Paula D. Ladd, Brad Angle, Hagit Baris, Kıvanç Çefle, Şükrü Palanduz, Şükrü Öztürk, Antoinette Chateau, Kentaro Deguchi, T.K.M Easwar, Antonio Federico, Amy Fox, Theresa A. Grebe, Beverly N. Hay, Sheela Nampoothiri, Karen Seiter, Elizabeth A. Streeten, Raúl E. Piña-Aguilar, Gemma Poke, Martin Poot, Renata Posmyk, George M. Martin, Christian Kubisch, Detlev Schindler, Junko Oshima

    Έκδοση 2016
    Λήψη πλήρους κειμένου
    Revisão
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  17. 17
    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features από Davor Lessel, Bruno Vaz, Swagata Halder, Paul J. Lockhart, Ivana Marinovic‐Terzić, Jaime López-Mosqueda, Melanie Philipp, Joe C.H. Sim, Katherine R. Smith, Judith Oehler, Elisa Barrón‐Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J. Leventer, Martin B. Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D. Burkhalter, Kay Hofmann, Hölger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M. Martin, Cora M. Aalfs, Junko Oshima, Janoš Terzić, David J. Amor, Ivan Đikić, Kristijan Ramadan, Christian Kubisch

    Έκδοση 2014
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  18. 18
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome από Machteld M. Oud, Paul Tuijnenburg, Maja Hempel, Naomi van Vlies, Zemin Ren, Sacha Ferdinandusse, Machiel H. Jansen, René Santer, Jessika Johannsen, Chiara Bacchelli, Mariëlle Alders, Rui Li, Rosalind Davies, Lucie Dupuis, Catherine M. Cale, Ronald J. A. Wanders, Steven T. Pals, Louise Ocaka, Chela James, Ingo Müller, Kai Lehmberg, Tim M. Strom, Hartmut Engels, Hywel Williams, Phil Beales, Ronald Roepman, Patrícia Dias, Han G. Brunner, Jan-Maarten Cobben, Christine M Hall, Taila Hartley, Polona Le Quesne Stabej, Roberto Mendoza‐Londono, E. Graham Davies, Sérgio B. Sousa, Davor Lessel, Heleen H. Arts, Taco W. Kuijpers

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  19. 19
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases από Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray‐Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard A. Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  20. 20
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder από Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Έκδοση 2017
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

Εργαλεία αναζήτησης: