Rezultati pretrage - Konrad Platzer

Detaljiziraj rezultate
  1. 1
    A misplaced lncRNA causes brachydactyly in humans

    A misplaced lncRNA causes brachydactyly in humans od Philipp G. Maass, Andreas Rump, Herbert Schulz, Sigmar Stricker, Lisanne Schulze, Konrad Platzer, Atakan Aydın, Sigrid Tinschert, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring

    Izdano 2012
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  2. 2
    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32 od Jasmin Beygo, Miriam Elbracht, Karel de Groot, Matthias Begemann, Deniz Kanber, Konrad Platzer, Gabriele Gillessen‐Kaesbach, Anne Vierzig, Andrew Green, Raoul Heller, Karin Buiting, Thomas Eggermann

    Izdano 2014
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  3. 3
    Current practice in diagnostic genetic testing of the epilepsies

    Current practice in diagnostic genetic testing of the epilepsies od Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel H. Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette G. Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne G. Weber, Johannes R. Lemke

    Izdano 2022
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  4. 4
    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy

    <i>GRIN2B</i> mutations in west syndrome and intellectual disability with focal epilepsy od Johannes R. Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Victoria L. Harvey, Victoria M. James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel, John Neidhardt, Susanne Ruf, Markus Wolff, Deborah Bartholdi, Roberto Caraballo, Konrad Platzer, Arvid Suls, Peter De Jonghe, Saskia Biskup, Sarah Weckhuysen

    Izdano 2013
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  5. 5
    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

    The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals od Pia Zacher, Patrick May, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne‐Christin Teichmann, Rami Abou Jamra, Johannes R. Lemke

    Izdano 2021
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  6. 6
    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy od Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer, Barbro Stadheim, H. W. C. DAVIS, Charlotte Peinhardt, Mahmoud Koko, Rohini Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago‐Sim, Tue Diemer, Christina Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Møller

    Izdano 2021
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  7. 7
    Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

    Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome od Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree L. Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lacombe, Gabriele Gillessen‐Kaesbach, Margo L. Whiteford, Caio Robledo D’Angioli Costa Quaio, Israel Gomy, Débora Romeo Bertola, Beate Albrecht, Konrad Platzer, George McGillivray, Ruobing Zou, D. Ross McLeod, Albert E. Chudley, Bernard N. Chodirker, Janet Marcadier, Jacek Majewski, Dennis E. Bulman, Susan M. White, Kym M. Boycott

    Izdano 2012
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  8. 8
    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

    Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies od Tobias Eisenberger, Christine Neuhaus, Arif O. Khan, Christian Decker, Markus N. Preising, Christoph Friedburg, Bieg Anika, Martin Gliem, Peter Charbel Issa, Frank G. Holz, Shahid Mahmood Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, S. Körtge‐Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y. Al‐Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S. Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J. Bolz

    Izdano 2013
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  9. 9
    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

    BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer od Nana Weber‐Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber‐Lassalle, Dieter Niederacher, Julika Borde, Hölger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang‐Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horváth, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Izdano 2018
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  10. 10
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies od Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Izdano 2019
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  11. 11
    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders od Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz‐Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch‐Hogrebe, Rami Abou Jamra, Juanita Neira‐Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, Lorne A. Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raúl Estévez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal

    Izdano 2021
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  12. 12
    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases od Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

    Izdano 2022
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  13. 13
    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum od Enrico D.H. Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Gabriella Horváth, Stephanie L. Santoro, Christine Shuss, Alban Ziegler, Dominique Bonneau, Marlies Kempers, Rolph Pfundt, Eric Legius, Arjan Bouman, Kyra E. Stuurman, Katrin Õunap, Sander Pajusalu, Monica H. Wojcik, Georgia Vasileiou, Gwenaël Le Guyader, Hege Marie Schnelle, Siren Berland, Evelien Zonneveld‐Huijssoon, Simone Kersten, Aditi Gupta, Patrick R. Blackburn, Marissa S. Ellingson, Matthew J. Ferber, Radhika Dhamija, Eric W. Klee, Meriel McEntagart, Klaske D. Lichtenbelt, Amy Kenney, Samantha A. Schrier Vergano, Rami Abou Jamra, Konrad Platzer, Mary Ella Pierpont, Divya Khattar, Robert J. Hopkin, Richard J. Martin, Marjolijn C.J. Jongmans, Vivian Y. Chang, Julián A. Martínez-Agosto, Outi Kuismin, Mitja Kurki, Olli Pietiläinen, Aarno Palotie, Timothy J. Maarup, Diana Johnson, Katja Venborg Pedersen, Lone Walentin Laulund, Sally Ann Lynch, Moira Blyth, Katrina Prescott, Natalie Canham, Rita Ibitoye, Eva H. Brilstra, Marwan Shinawi, Emily Fassi, Heinrich Sticht, Anne Gregor, Hilde Van Esch, Christiane Zweier

    Izdano 2019
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  14. 14
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder od Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    Izdano 2021
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  15. 15
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease od Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    Izdano 2023
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  16. 16
    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype

    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype od Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp, Katie Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H. Brilstra, Oebele F. Brouwer, Petra M.C. Callenbach, Julia Hentschel, Édouard Hirsch, Peter C. Kind, Cyril Mignot, Konrad Platzer, P. Rump, Paul Skehel, David J. A. Wyllie, Giles E. Hardingham, Conny M.A. van Ravenswaaij‐Arts, Gaëtan Lesca, Johannes R. Lemke, Alexis Arzimanoglou, Paul B. Augustijn, Patrick Van Bogaert, Helene Bourry, Peter Burfeind, Yoyo W. Y. Chu, Brian Chung, Diane Doummar, Patrick Edery, Aviva Fattal‐Valevski, Mélanie Fradin, Marion Gérard, Christa de Geus, Boudewijn Gunning, Danielle Hasaerts, Ingo Helbig, Katherine L. Helbig, Rami Abou Jamra, Mélanie Jennesson Lyver, Jolien S. Klein Wassink‐Ruiter, David A. Koolen, Damien Lederer, Roelineke J. Lunsing, Mikaël Mathot, Hélène Maurey, Shay Menascu, Anne Michel, Ghayda Mirzaa, Diana Mitter, Hiltrud Muhle, Rikke S. Møller, Caroline Nava, Margaret O’Brien, Evelyn van Pinxteren-Nagler, Anne van Riesen, Christelle Rougeot, Damien Sanlaville, Jolanda Schieving, Steffen Syrbe, Hermine E. Veenstra‐Knol, Nienke E. Verbeek, Dorothée Ville, Yvonne J. Vos, Pascal Vrielynck, Sabrina Wagner, Sarah Weckhuysen, Marjolein H. Willemsen

    Izdano 2018
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  17. 17
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects od Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Izdano 2017
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  18. 18
    Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

    Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer od Manuel A. R. Ferreira, Eric R. Gamazon, Fares Al‐Ejeh, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton‐Culver, Aðalgeir Arason, Volker Arndt, Kristan J. Aronson, Banu K. Arun, Ella Asseryanis, Jacopo Azzollini, Judith Balmañà, Daniel R. Barnes, Daniel Barrowdale, Matthias W. Beckmann, Sabine Behrens, Javier Benı́tez, Marina Bermisheva, Katarzyna Białkowska, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Åke Borg, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Trinidad Caldés, Maria A. Caligo, Daniele Campa, Ian Campbell, Federico Canzian, Jonathan Carter, Brian D. Carter, Jose E. Castelao, Jenny Chang‐Claude, Stephen J. Chanock, Hans Christiansen, Wendy K. Chung, Kathleen Claes, Christine L. Clarke, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan C. Donaldson, Jacqueline Eason, Ros Eeles, D. Gareth Evans, Helen Gregory, Helen Hanson, Alex Henderson, Shirley Hodgson, Louise Izatt, Michael J. Kennedy, Fiona Lalloo, Clare Miller, Patrick J. Morrison, Kai‐Ren Ong, Jo Perkins, Mary Porteous, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Patricia A. Harrington, Norbert Arnold, Bernd Auber, Nadja Bogdanova-Markov, Julika Borde, Almuth Caliebe, Nina Ditsch, Bernd Dworniczak, Stefanie Engert, Ulrike Faust, Andrea Gehrig, Eric Hahnen, Jan Hauke, Julia Hentschel, Wei He, Ellen Honisch, Walter Just, Karin Kast, Mirjam Larsen, Johannes Lemke, Huu Phuc Nguyen, Dieter Niederacher, Claus‐Eric Ott, Konrad Platzer, Esther Pohl‐Rescigno, Juliane Ramser, Kerstin Rhiem, Doris Steinemann, Christian Sutter, Raymonda Varon-Mateeva

    Izdano 2019
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  19. 19
    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 od 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

    Izdano 2021
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  20. 20
    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases od Hellen Lesmann, Alexander Hustinx, Shahida Moosa, Hannah Klinkhammer, Elaine Marchi, Pilar Caro, Ibrahim M. Abdelrazek, Jean Tori Pantel, Merle ten Hagen, Meow‐Keong Thong, Rifhan Azwani Mazlan, Sok Kun Tae, Tom Kamphans, Wolfgang Meiswinkel, Jingmei Li, Behnam Javanmardi, Alexej Knaus, Annette Uwineza, Cordula Knopp, Tinatin Tkemaladze, Miriam Elbracht, Larissa Mattern, Rami Abou Jamra, Clara Velmans, Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias, Beatriz Nunes, Thainá Vilella, Isabel Furquim Pinheiro, Chong Ae Kim, Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Mirosław Kwaśniewski, Ramy Saad, Sarah Wiethoff, Himanshu Goel, Clara Sze-Man Tang, Anna Hau, Tahsin Stefan Barakat, Przemysław Panek, Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy, Luisa Averdunk, Ekanem N. Ekure, Gaber Bergant, Borut Peterlin, Claudio Graziano, Nagwa E. A. Gaboon, Moisés Ó. Fiesco-Roa, Alessandro Spinelli, Nina‐Maria Wilpert, Prasit Phowthongkum, Nergis Güzel, Tobias B. Haack, Rana Bitar, Andreas Tzschach, Agustí Rodríguez‐Palmero, Theresa Brunet, Sabine Rudnik–Schöneborn, Silvina Contreras‐Capetillo, Ava Oberlack, Carole Samango‐Sprouse, Teresa Sadeghin, Margaret Olaya, Konrad Platzer, Artem Borovikov, Franziska Schnabel, Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlósi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio Federico Martínez‐Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed, Amaia Lasa‐Aranzasti, John A. Sayer, Nadja Ehmke, Magdalena Danyel, Henrike L. Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, R. Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun

    Izdano 2024
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