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Items: 1 to 20 of 232

1.
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Anne O’Donnell-Luria, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald Conrad, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Version 1. medRxiv. Preprint. 2023 Sep 28. doi: 10.1101/2023.09.27.23294269
PMCID:
PMC10557843
2.
Ewelina Bukowska-Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
J Appl Genet. 2024; 65(2): 287–301. Published online 2024 Jan 5. doi: 10.1007/s13353-023-00824-1
PMCID:
PMC11003913
3.
Amarens Hoogenboom, Farah A. Falix, Liselot van der Laan, Jennifer Kerkhof, Mariëlle Alders, Bekim Sadikovic, Mieke M. van Haelst
Eur J Hum Genet. 2024 Apr; 32(4): 435–439. Published online 2024 Jan 25. doi: 10.1038/s41431-023-01527-1
PMCID:
PMC10999433
4.
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
Orphanet J Rare Dis. 2024; 19: 111. Published online 2024 Mar 10. doi: 10.1186/s13023-024-03104-1
PMCID:
PMC10926648
5.
Rachel E. Musa, Kaitlyn L. Lester, Gabrielle Quickstad, Sara Vardabasso, Trevor V. Shumate, Ryan T. Salcido, Kai Ge, Karl B. Shpargel
Development. 2024 Jan 15; 151(2): dev202110. Published online 2024 Jan 24. doi: 10.1242/dev.202110
PMCID:
PMC10905746
6.
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
HGG Adv. 2024 Apr 11; 5(2): 100273. Published online 2024 Jan 30. doi: 10.1016/j.xhgg.2024.100273
PMCID:
PMC10876629
7.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean-Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Veronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quélin, Sylvia Quemener-Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale Saugier-Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frederic Tran Mau-Them, Aurélien Trimouille, Julien Van Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Eur J Hum Genet. 2024 Feb; 32(2): 190–199. Published online 2023 Oct 23. doi: 10.1038/s41431-023-01474-x
PMCID:
PMC10853222
8.
David Ros-Pardo, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde
Int J Mol Sci. 2024 Jan; 25(2): 1280. Published online 2024 Jan 20. doi: 10.3390/ijms25021280
PMCID:
PMC10816197
9.
Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi
BMC Med Genomics. 2024; 17: 20. Published online 2024 Jan 12. doi: 10.1186/s12920-024-01798-7
PMCID:
PMC10787426
10.
Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr, Careni Spencer, Maria Mudau, Engela Honey, Zane Lombard, Amanda Krause, Nadia Carstens
Mol Genet Genomic Med. 2024 Jan; 12(1): e2342. Published online 2024 Jan 12. doi: 10.1002/mgg3.2342
PMCID:
PMC10785556
11.
Yin Peng, Ying Zhu, Lin Wu, Fang Deng
Mol Genet Genomic Med. 2024 Jan; 12(1): e2318. Published online 2023 Nov 14. doi: 10.1002/mgg3.2318
PMCID:
PMC10767608
12.
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
13.
Fanny Boulet, Gaelle Odelin, Alenca Harrington, Thomas Moore-Morris
Int J Mol Sci. 2023 Nov; 24(21): 15564. Published online 2023 Oct 25. doi: 10.3390/ijms242115564
PMCID:
PMC10648932
14.
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
J Med Genet. 2023 Oct; 60(10): 999–1005. Published online 2023 Apr 25. doi: 10.1136/jmg-2022-108803
PMCID:
PMC10579487
15.
Rebecca A MacPherson, Vijay Shankar, Robert R H Anholt, Trudy F C Mackay
Genetics. 2023 Aug; 224(4): iyad061. Published online 2023 Apr 10. doi: 10.1093/genetics/iyad061
PMCID:
PMC10411607
16.
Celina Tretter, Niklas de Andrade Krätzig, Matteo Pecoraro, Sebastian Lange, Philipp Seifert, Clara von Frankenberg, Johannes Untch, Gabriela Zuleger, Mathias Wilhelm, Daniel P. Zolg, Florian S. Dreyer, Eva Bräunlein, Thomas Engleitner, Sebastian Uhrig, Melanie Boxberg, Katja Steiger, Julia Slotta-Huspenina, Sebastian Ochsenreither, Nikolas von Bubnoff, Sebastian Bauer, Melanie Boerries, Philipp J. Jost, Kristina Schenck, Iska Dresing, Florian Bassermann, Helmut Friess, Daniel Reim, Konrad Grützmann, Katrin Pfütze, Barbara Klink, Evelin Schröck, Bernhard Haller, Bernhard Kuster, Matthias Mann, Wilko Weichert, Stefan Fröhling, Roland Rad, Michael Hiltensperger, Angela M. Krackhardt
Nat Commun. 2023; 14: 4632. Published online 2023 Aug 2. doi: 10.1038/s41467-023-39570-7
PMCID:
PMC10397250
17.
Tanya Novak, Jeremy Chase Crawford, Georg Hahn, Mark W. Hall, Simone A. Thair, Margaret M. Newhams, Janet Chou, Peter M. Mourani, Keiko M. Tarquinio, Barry Markovitz, Laura L. Loftis, Scott L. Weiss, Renee Higgerson, Adam J. Schwarz, Neethi P. Pinto, Neal J. Thomas, Rainer G. Gedeit, Ronald C. Sanders, Jr., Sidharth Mahapatra, Bria M. Coates, Natalie Z. Cvijanovich, Kate G. Ackerman, David W. Tellez, Patrick McQuillen, Stephen C. Kurachek, Steven L. Shein, Christoph Lange, Paul G. Thomas, Adrienne G. Randolph
Front Immunol. 2023; 14: 1220028. Published online 2023 Jul 18. doi: 10.3389/fimmu.2023.1220028
PMCID:
PMC10390830
18.
Ignacio Arroyo-Carrera, María Solo de Zaldívar-Tristancho, Verónica D. García Navas-Núñez, Alba Ramajo-Polo, Marta Gutiérrez-Agujetas
Rev Neurol. 2023; 76(3): 111–115. Spanish. Published online 2023 Feb 1. doi: 10.33588/rn.7603.2022165
PMCID:
PMC10364041
19.
Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe
Genes (Basel) 2023 Jun; 14(6): 1241. Published online 2023 Jun 10. doi: 10.3390/genes14061241
PMCID:
PMC10297877
20.
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Genes (Basel) 2023 Apr; 14(4): 852. Published online 2023 Mar 31. doi: 10.3390/genes14040852
PMCID:
PMC10138066

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