检索结果 - Thatjana Gardeitchik

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  1. 1
    Metabolic cutis laxa syndromes

    Metabolic cutis laxa syndromes 由 Miski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, Uwe Kornak, Ron A. Wevers, Éva Morava

    出版 2011
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  2. 2
    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

    Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies 由 Maartje Pennings, Rowdy Meijer, Monique M. Gerrits, Jannie W.H. Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol C. Voermans, Bart van de Warrenburg, Erik‐Jan Kamsteeg

    出版 2023
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  3. 3
    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression 由 Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava

    出版 2011
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  4. 4
    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging 由 Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams

    出版 2020
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  5. 5
    Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

    Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies 由 Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Mariël van den Brand, Sanne van Kraaij, Ellyze van Asbeck, Zahra Assouline, Marlène Rio, Pascale de Lonlay, Sabine Scholl‐Buergi, David F.G.J. Wolthuis, Alexander Hoischen, Richard J. Rodenburg, Wolfgang Sperl, Zsolt Urbán, Ulrich Brandt, Johannes A. Mayr, Sunnie Wong, Arjan P.M. de Brouwer, Leo Nijtmans, Arnold Münnich, Agnès Rötig, Ron A. Wevers, Metodi D. Metodiev, Éva Morava

    出版 2018
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  6. 6
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients 由 Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valérie Benoît, Alfonso Caro‐Llopis, Nicola Cooper, François‐Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn Ivar Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martı́nez, Sarju Mehta, Marie‐Cécile Nassogne, Nina Powell‐Hamilton, Rolph Pfundt, Mónica Roselló, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen‐Dumoulin, Alain Verloès, Charlotte von der Lippe, Emma Wakeling, Andrew O.M. Wilkie, Louise C. Wilson, Amy Lawson Yuen, Ddd Study, Karen Low, Ruth Newbury‐Ecob

    出版 2017
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  7. 7
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer 由 Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    出版 2018
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  8. 8
    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa 由 Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero‐Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J. Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, Georg Christoph Korenke, Brian Hon‐Yin Chung, Christopher Chun Yu Mak, Ingrid Haußer, Uwe Kornak, Björn Fischer‐Zirnsak, Tim M. Strom, Thomas Meitinger, Yasemin Alanay, Gülen Eda Ütine, Kai Ching Peter Leung, Siavash Ghaderi‐Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B. Haack, Fransiska Malfait, Éva Morava, Bert Callewaert, Ron A. Wevers

    出版 2017
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  9. 9
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development 由 Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    出版 2020
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  10. 10
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior 由 Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    出版 2021
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  11. 11
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature 由 Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    出版 2021
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  12. 12
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 由 Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    出版 2024
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