المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria 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

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

المؤلفون: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/669f0574667343e2aba272d086c020c6

المؤلفون: Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Guido Rubboli

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: myoclonic-atonic seizures, generalized seizures, disease severity, developmental delay, glycosylphosphatidylinositol biosynthesis defects, inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.663643/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b8ca8cd0befe4ae3a52d7cd5facc0408

المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/afa5f18f07b548228b00ab048e187a66

المؤلفون: Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow

المصدر: American Journal of Medical Genetics Part A. 191:469-478

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7335cfebc481808448d1ab11f9b9a202
https://doi.org/10.1002/ajmg.a.63044

المؤلفون: Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier, Anita, Rauch

مصطلحات موضوعية: Q Science (General)

وصف الملف: application/pdf

Relation: http://gala.gre.ac.uk/id/eprint/41737/1/41737-ASADOLLAHI-New-insights-into-the-clinical-and-molecular-spectrum-of-the-novel-CYFIP2-related-neurodevelopmental-disorder-and-impairment-of-the-WRC-mediated-actin-dynamics.pdf; Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:https://doi.org/10.1038/s41436-020-01011-x )

الاتاحة: http://gala.gre.ac.uk/id/eprint/41737/
http://gala.gre.ac.uk/id/eprint/41737/1/41737-ASADOLLAHI-New-insights-into-the-clinical-and-molecular-spectrum-of-the-novel-CYFIP2-related-neurodevelopmental-disorder-and-impairment-of-the-WRC-mediated-actin-dynamics.pdf
https://doi.org/10.1038/s41436-020-01011-x

المؤلفون: Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser, Nina B. Gold

المصدر: American Journal of Medical Genetics. Part A, 188, 9, pp. 2750-2759
American Journal of Medical Genetics. Part A, 188, 2750-2759

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18646a505c76b23692e3a8d5bfa0148
https://doi.org/10.1002/ajmg.a.62772

المؤلفون: Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A.N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frédéric Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte I. De Bie, Sjoerd J.B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys

المصدر: Genetics in medicine
Genetics in Medicine, 24, 1583-1591
Genetics in Medicine, 24, 7, pp. 1583-1591

مصطلحات موضوعية: Heterozygote, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Gene Expression Regulation, Autism Spectrum Disorder, Neurodevelopmental Disorders, Intellectual Disability, Humans, Human medicine, Phosphoproteins, Genetics (clinical), Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b73537ad914eb673a4bc07cc2d60adf1
https://doi.org/10.1016/j.gim.2022.04.003

المؤلفون: Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Elena B. Riel, Katherine E. Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R. Mark, Srikanth Muppidi, Pavel N. Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P. Carpenter, Karin E. J. Rödström, Michael G. Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E. Hurles, Caroline F. Wright, Stephen J. Tucker

مصطلحات موضوعية: Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de95186b04ef58aa01a12b0a5e88aa3
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17

المؤلفون: Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal

المساهمون: Paul, Maimuna S, Duncan, Anna R, Genetti, Casie A, Pan, Hongling, Jackson, Adam, Grant, Patricia E, Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P, Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B, Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobia, Alhamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexi, Mullegama, Sureni V, Palculict, Timothy Blake, Calame, Daniel G, Schwan, Katharina, Aycinena, Alicia R P, Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B

المصدر: Am J Hum Genet

مصطلحات موضوعية: Genetics, epilepsy, Drosophila, DEAD-box protein, neurodevelopmental disorder, Genetics (clinical), Article, transcription factor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
https://hdl.handle.net/11588/907834

المؤلفون: David A. Koolen, Yue Si, Benjamin Cogné, Pamela Trapane, Eric W. Klee, Manju A. Kurian, Miel Theunis, Eva Morava, Shekeeb S. Mohammad, Oguz Kanca, Matthew J. Moulton, Paulien A Terhal, Peggy Kulch, Queenie K.-G. Tan, An-Chi Tien, Shenzhao Lu, Erica L. Macke, Hugo J. Bellen, Katy Barwick, Bryan E. Hainline, Russell C. Dale, Lindsey D. Goodman, Katherine Sapp, Hermine E. Veenstra-Knol, Eric Legius, Amber Begtrup, Dora Steel, D. Dutta, Victoria H. Klee, Christopher J. Spencer, Bethany Robinette, Ellen van Binsbergen, Michael F. Wangler, Laurence E. Walsh, Shinya Yamamoto, Thomas A. Ravenscroft, Brian Kirmse, Bertrand Isidor, Marijke R. Wevers, Zelha Nil, Heidi Cope, Theresa A. Grebe, Melissa Jones, Wu Lin Charng, Rolph Pfundt, Jolien S. Klein Wassink-Ruiter, Charlotte A. Haaxma

المصدر: Am J Hum Genet
American Journal of Human Genetics, 108(9), 1669-1691. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1669-1691
American Journal of Human Genetics, 108, 1669-1691

مصطلحات موضوعية: Male, Developmental Disabilities, Gene Dosage, DE-NOVO, medicine.disease_cause, NUCLEAR-IMPORT, Drosophila Proteins, Global developmental delay, RNA, Small Interfering, Genetics (clinical), Neurons, Genetics, Mutation, Gene Expression Regulation, Developmental, Eye Diseases, Hereditary, GAL4 SYSTEM, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], beta Karyopherins, Phenotype, Drosophila melanogaster, Essential gene, Female, Beta Karyopherins, Drosophila Protein, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, C-FOS, PROTEINS, Karyopherins, Biology, Article, All institutes and research themes of the Radboud University Medical Center, Intellectual Disability, medicine, Animals, Humans, Amino Acid Sequence, Alleles, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, Sequence Homology, Amino Acid, Whole Genome Sequencing, Genome, Human, MUTATIONS, Infant, Newborn, Infant, biology.organism_classification, MUSHROOM BODY, TRANSPORTIN, Musculoskeletal Abnormalities, ran GTP-Binding Protein, Ectopic expression, Sequence Alignment

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0eefbb5baf3b41c35fc11bfd9840b3
https://doi.org/10.1016/j.ajhg.2021.06.019

المؤلفون: Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns

المساهمون: Genomics England Res Consortium

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MMP2, Loss of Heterozygosity, Importin, 030204 cardiovascular system & hematology, Biology, Importin 8, Loeys–Dietz syndrome, Thoracic aortic aneurysm, Mice, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, Report, TGF beta signaling pathway, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Mice, Knockout, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Aortic Aneurysm, Thoracic, Syndrome, beta Karyopherins, medicine.disease, Pedigree, Cell biology, Mice, Inbred C57BL, CTGF, Phenotype, 030104 developmental biology, Child, Preschool, Knockout mouse, Female, Human medicine, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24e6c0679dae811ef67aedbd6e7ffa5
https://doi.org/10.1016/j.ajhg.2021.04.019

المؤلفون: William Hankey, Lindsay Worley, Kyle Hilliard, Shannon McNulty, Xiao Peng, Neil Romberg, Anne Puel, Amber Begtrup, Alejandro Nieto-Patlán

المصدر: Clinical Immunology. 250:109425

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c3210a997a6dad1cf6a2cfe8e55b5158
https://doi.org/10.1016/j.clim.2023.109425

المؤلفون: Ibrahim H. Kaya, Mehran Beiraghi Toosi, Peter Bauer, Farah Ashrafzadeh, Najmeh Ahangari, Stefan T. Arold, Aida M. Bertoli-Avella, Antonina Wojcik, Mohammad A. Al-Muhaizea, Kelly J. Cardona-Londoño, Meisam Babaei, Amber Begtrup, Nouriya Al-Sannaa, Dilek Colak, Elisa Cali, Ehsan Ghayoor Karimiani, Marian Y. Girgis, Obdulia Sanchez‐Lijarcio, Namik Kaya, Chin-To Fong, Marcelo Vargas, Shima Imannezhad, Tahsin Stefan Barakat, David Murphy, Audrey Schroeder, Paria Najarzadeh Torbati, Henry Houlden, Anita Nikoncuk, Kristina Lanko, Belén Pérez, Salvador Ibáñez-Mico, Reza Maroofian, Mohammad Doosti, Tainá Regina Damaceno Silveira, Ruizhi Deng, Eva Medico Salsench

المساهمون: Clinical Genetics

المصدر: Brain
Brain, 144(10):e86. Oxford University Press

مصطلحات موضوعية: Male, Mice, Knockout, AcademicSubjects/SCI01870, Vesicular Transport Proteins, Library science, Golgi Apparatus, Scholarship, Mice, Human disease, Neurodevelopmental Disorders, Political science, Mutation, Animals, Humans, AcademicSubjects/MED00310, Female, Neurology (clinical), Cilia, Clinical phenotype, Erasmus+, Letter to the Editor, Disability research, Cells, Cultured

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efae46cdc8615222297b8bde004f2ab1
https://doi.org/10.1093/brain/awab297

المؤلفون: Amber Begtrup, Aljouhra AlHargan, Stefan T. Arold, Anoud Abdulmalik Albader, Peter I. Karachunski, Rawan Almass, Laila AlQuait, Tahsin Stefan Barakat, Ibrahim H. Kaya, Aida M. Bertoli-Avella, Eva Medico Salsench, Dilek Colak, Namik Kaya, Monica Segura Castell, Jude Howaidi, Aziza Chedrawi, Jacie Ihinger, Peter Bauer, Jumanah Al-Sufayan, Mohammed A. AlMuhaizea

المساهمون: Clinical Genetics

المصدر: Acta Neuropathologica, 139(4), 791-794. Springer-Verlag

مصطلحات موضوعية: Male, 0301 basic medicine, Vesicular Transport Proteins, Library science, Genetics department, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Human disease, Political science, Humans, Progressive encephalopathy, Child, Erasmus+, Disability research, Brain Diseases, Epilepsy, Movement Disorders, Pedigree, 030104 developmental biology, Research centre, Child, Preschool, Mutation, Microcephaly, Female, Neurology (clinical), 030217 neurology & neurosurgery, Sequencing Core

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab78f55b8d441a122f8ae59dbeddd67
https://doi.org/10.1007/s00401-020-02128-8

المؤلفون: Emma Wakeling, Quan Li, Laurence E. Walsh, Maria J. Guillen Sacoto, Julie Vogt, Jeff L. Waugh, James R. Lupski, Elizabeth E. Palmer, Alan F. Rope, Robert Kleyner, Amalia Mallawaarachchi, Sebastian Lunke, Jennifer E. Posey, Pankaj B. Agrawal, Sebastien Moutton, Laurence Faivre, Zornitza Stark, Prosper Lukusa, Emily Fassi, Gareth Baynam, Gabriela Soares, Antonie D. Kline, Sonja A. de Munnik, Sarah A. Sandaradura, Chunhua Weng, Lucinda Murray, Lisa Ewans, Ganka Douglas, Eyby Leon, Shehla Mohammed, Marcia C. Willing, Elaine Marchi, Nora Alexander, Paul R. Mark, Joris Vermeesch, Lauren Dreyer, Aimé Lumaka, Koenraad Devriendt, Gholson J. Lyon, Helena Ahlfors, Katelyn Payne, Piatek G. Stefan, Jullianne Diaz, Lesley C. Adès, Simona Capponi, Jean-Baptiste Rivière, Michael F. Buckley, Amber Begtrup, H. T. Marc Timmers, Tony Roscioli, Mengge Zhao, Ana R. Gonçalves, Hanyin Cheng, Lisa Worgan, Kai Wang, Jorge Oliveira

المصدر: Hum Mutat

مصطلحات موضوعية: Genetics, 0303 health sciences, Heart malformation, 030305 genetics & heredity, Biology, medicine.disease, Article, Hypotonia, 03 medical and health sciences, Autism spectrum disorder, Human Phenotype Ontology, Intellectual disability, medicine, Copy-number variation, Allele, medicine.symptom, Genetics (clinical), Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b085cf5ac7f21229d6b3096c675267c4
https://doi.org/10.1002/humu.23936

المؤلفون: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song

المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3

مصطلحات موضوعية: CHROMATIN, Male, 0301 basic medicine, Autism, Sequence Homology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical and Health Sciences, 0302 clinical medicine, SCHIZOPHRENIA, Gene expression, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, de novo variants, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, biology, neurodevelopmental disorders, histone acetylation, Adaptor Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Biological Sciences, Prognosis, Phenotype, Chromatin, Mental Health, Histone, intellectual disability, Child, Preschool, Female, REGULATOR, congenital malformations, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], BRAIN-DEVELOPMENT, Adult, Adolescent, Histone acetyltransferase complex, Intellectual and Developmental Disabilities (IDD), Mutation, Missense, Deciphering Developmental Disorders study, autism spectrum disorder, KAT6B, RNAI SCREEN, Young Adult, 03 medical and health sciences, CAUSES Study, Rare Diseases, Intellectual Disability, Report, COFACTOR, medicine, RUBINSTEIN-TAYBI-SYNDROME, Humans, Amino Acid Sequence, Autistic Disorder, Preschool, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Signal Transducing, Neurosciences, Infant, medicine.disease, TRRAP, Brain Disorders, SELF-RENEWAL, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, biology.protein, Missense, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010

المؤلفون: Matthew E. Hurles, Srikanth Muppidi, Jan Fischer, Volker Straub, Pradeep C. Vasudevan, Janina Sörmann, Maria Descartes, Joseph Porrmann, Thomas Baukrowitz, Paul R. Mark, Carrie A. Lahner, Michael G. Hahn, Pavel N. Pichurin, Alice Gardham, Marcus Schewe, Thibault R. H. Jouen-Tachoire, Caroline F. Wright, John R. Dean, Amber Begtrup, Jens Schallner, Stephen J. Tucker, Elena B. Riel, Shanlin Rao, Rebecca Willaert, Thomas Müller, Kirstin Smith, Karin E. J. Rödström, Katherine Agre, Elisabeth P. Carpenter, Peter Proks

مصطلحات موضوعية: Developmental disorder, Gain of function, business.industry, medicine, Sleep apnea, Gating, medicine.disease, business, Receptor, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf1340798e7aa4606481beca7098b13a
https://doi.org/10.1101/2021.08.05.21261490

المؤلفون: Amber Begtrup, Mohammad Shahrooei, Deniz Cagdas, Douglas B. Kuhns, Juan Luis Valdivieso Shephard, Nezihe Köker, Joachim Roesler, Amy P. Hsu, Marie José Stasia, Antonio Condino-Neto, Harry L. Malech, Jacinta Bustamante, Esmaeil Mortaz, Ilhan Tezcan, Pandiarajan Vignesh, Baruch Wolach, Dirk Roos, María Bravo García-Morato, Marianne Antonius Jakobsen, Steven M. Holland, Roya Sherkat, Rhonda Brandon, Hirokazu Kanegane, Mauno Vihinen, Faris G. Bakri, Lizbeth Blancas-Galicia, Abbas Fayezi, Amit Rawat, Karin van Leeuwen, John I. Gallin, Toshinao Kawai, M. Yavuz Köker, Christa S. Zerbe, Martin de Boer, Manesha Madkaikar, Debra A. Long Priel

المساهمون: Sanquin Research, University of Amsterdam [Amsterdam] (UvA), Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, Neutrophil Monitoring Laboratory, Frederick National Laboratory for Cancer Research (FNLCR), GeneDx [Gaithersburg, MD, USA], Postgraduate Institute of Medical Education and Research, Indian Council of Medical Research [New Dehli] (ICMR), Institut de biologie structurale (IBS - UMR 5075), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), The University of Jordan (JU), University Hospital Carl Gustav Carus [Dresden, Germany], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Erciyes University, Odense University Hospital [Odense, Denmark], Department of Pediatrics, Division of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Landsteiner Laboratory

المصدر: Roos, D, van Leeuwen, K, Hsu, A P, Priel, D L, Begtrup, A, Brandon, R, Rawat, A, Vignesh, P, Madkaikar, M, Stasia, M J, Bakri, F G, de Boer, M, Roesler, J, Köker, N, Köker, M Y, Jakobsen, M, Bustamante, J, Garcia-Morato, M B, Shephard, J L V, Cagdas, D, Tezcan, I, Sherkat, R, Mortaz, E, Fayezi, A, Shahrooei, M, Wolach, B, Blancas-Galicia, L, Kanegane, H, Kawai, T, Condino-Neto, A, Vihinen, M, Zerbe, C S, Holland, S M, Malech, H L, Gallin, J I & Kuhns, D B 2021, ' Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update) ', Blood Cells, Molecules and Diseases, vol. 92, 102596 . https://doi.org/10.1016/j.bcmd.2021.102596
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases, Elsevier, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Blood cells, molecules & diseases, 92:102596. Academic Press Inc.

مصطلحات موضوعية: Autosomal recessive, medicine.disease_cause, Granulomatous Disease, Chronic, Microbiology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Chronic granulomatous disease, medicine, Humans, Polymorphism, Molecular Biology, Gene, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Mutation, Reactive oxygen species, NADPH oxidase, biology, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], Superoxide, HERANÇA GENÉTICA, NADPH Oxidases, Cell Biology, Hematology, medicine.disease, 3. Good health, Enzyme, chemistry, biology.protein, Molecular Medicine, P22phox, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66515d90754a8c45dd3a9481543bb57
https://pubmed.ncbi.nlm.nih.gov/34547651

المؤلفون: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani

المصدر: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024

مصطلحات موضوعية: Proband, Male, Microcephaly, metabolism [Neurodevelopmental Disorders], Care4Rare Canada Consortium, Proteome, Loss of Heterozygosity, Medical and Health Sciences, Germline, Mice, transcriptomics, Neurodevelopmental disorder, Neoplasm Proteins/genetics, Cell Movement, Loss of Function Mutation, thin corpus callosum, BCAS3, 2.1 Biological and endogenous factors, Global developmental delay, microcephaly, Aetiology, Child, analysis [Proteome], Genetics (clinical), Fibroblasts/metabolism, Genetics, Mice, Knockout, Pediatric, Genetics & Heredity, 0303 health sciences, 030305 genetics & heredity, BCAS3 protein, human, Biological Sciences, ddc, Neoplasm Proteins, Pedigree, Child, Preschool, metabolism [Neoplasm Proteins], Knockout mouse, Drosophila, Female, UAS-Gal4, medicine.symptom, pathology [Fibroblasts], metabolism [Fibroblasts], Adult, Adolescent, pyramidal tract involvement, Knockout, global developmental delay, Biology, Short stature, Article, 03 medical and health sciences, Young Adult, proteomics, ddc:570, etiology [Neurodevelopmental Disorders], fibroblasts, Proteome/analysis, medicine, pathology [Neurodevelopmental Disorders], Neurodevelopmental Disorders/etiology, Animals, Humans, Allele, Preschool, 030304 developmental biology, genetics [Neoplasm Proteins], Human Genome, Infant, medicine.disease, neurodevelopmental disorder, Brain Disorders, Genomics England Research Consortium, Neurodevelopmental Disorders, Congenital Structural Anomalies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207