المؤلفون: Harish Sudarsanam, Maximilian Radtke, Raymund Buhmann, Vladan Vučinić, Rami Abou-Jamra, Reinhard Henschler

المصدر: HemaSphere, Vol 7, p e173592c (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972396.17359.2c; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/a9e7541e13414fbea3da6e7fe54a06bb

المؤلفون: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Mesomelic dysplasia, Horseshoe kidney, Intellectual disability, Transcriptome, Zebrafish model, Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1186/s13073-024-01339-y; https://doaj.org/toc/1756-994X; https://doaj.org/article/0358fc56f6054b188a138c71c996e968

الاتاحة: https://doi.org/10.1186/s13073-024-01339-y
https://doaj.org/article/0358fc56f6054b188a138c71c996e968

المؤلفون: Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna S. Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne-Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, Antje Garten, Rami Abou Jamra, Diana Le Duc

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/f0c825a9e8ef41399622f3cfb955f5f9

المؤلفون: Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2023)

مصطلحات موضوعية: Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1020609/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645

المؤلفون: Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001887; https://doaj.org/toc/2949-7744; https://doaj.org/article/63607ac1340c4282b5f0385f8b733957

الاتاحة: https://doi.org/10.1016/j.gimo.2023.100188
https://doaj.org/article/63607ac1340c4282b5f0385f8b733957

المؤلفون: Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, Tzung-Chien Hsieh

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300225X; https://doaj.org/toc/2949-7744; https://doaj.org/article/53490ee809494458b2dfb9c17cc26a84

الاتاحة: https://doi.org/10.1016/j.gimo.2023.100225
https://doaj.org/article/53490ee809494458b2dfb9c17cc26a84

المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)

مصطلحات موضوعية: 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1186/s13073-023-01258-4; https://doaj.org/toc/1756-994X; https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2

الاتاحة: https://doi.org/10.1186/s13073-023-01258-4
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2

المؤلفون: Akhil Velluva, Maximillian Radtke, Susanne Horn, Bernt Popp, Konrad Platzer, Erind Gjermeni, Chen-Ching Lin, Johannes R. Lemke, Antje Garten, Torsten Schöneberg, Matthias Blüher, Rami Abou Jamra, Diana Le Duc

المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/ac3037e353d248199606be6e0d9be1b9

المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf

المؤلفون: 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 Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter 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 M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2

المؤلفون: Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 610-627 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8027663439ce453b9d8a5847b2e2185f

المؤلفون: Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, Maximilian Radtke, Tobias Helms, Julia Hentschel, Denny Popp, Rami Abou Jamra

المصدر: Genes; Volume 14; Issue 1; Pages: 30

مصطلحات موضوعية: re-analysis, exome sequencing, neurodevelopmental disorder

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14010030

الاتاحة: https://doi.org/10.3390/genes14010030

المؤلفون: Robin-Tobias Jauss, Sophia Schließke, Rami Abou Jamra

المصدر: Genes; Volume 13; Issue 12; Pages: 2305

مصطلحات موضوعية: routine diagnostics, neurodevelopmental disorder, epilepsy, exome sequencing, gene–disorder association

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13122305

الاتاحة: https://doi.org/10.3390/genes13122305

المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/663adb56ce6f405da787645af9303af8

المؤلفون: Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri

المصدر: Human Molecular Genetics, 32, 14, pp. 2373-2385

مصطلحات موضوعية: Ankyrins/genetics, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Axon Initial Segment/metabolism, Induced Pluripotent Stem Cells, Genetics, Neurons/metabolism, Humans, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Molecular Biology, Genetics (clinical), Epilepsy/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd3b86c716e243a79dec03933a9e66
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a

المؤلفون: Akhil Velluva (11659679), Maximillian Radtke (11659682), Susanne Horn (231432), Bernt Popp (512553), Konrad Platzer (483413), Erind Gjermeni (11659685), Chen-Ching Lin (380929), Johannes R. Lemke (3175583), Antje Garten (102778), Torsten Schöneberg (86992), Matthias Blüher (103713), Rami Abou Jamra (558384), Diana Le Duc (5151281)

مصطلحات موضوعية: Genetics, “ dynamic ”, study neurodevelopmental disorders, identified skeletal muscle, https :// bioinf, cause blind spots, identify expressed genes, cardiac arrhythmia genes, perform correlation analyses, used 54 tissues, conclusions ptee aids, also explored rna, annotated genes, tissues suitable, probed tissues, valuable method, success rate, resource facilitates, ptee ), good proxy, given pathology, gene expression, gene discovery, freely available, clinical genetics, circadian rhythm, based analyses

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Phenotype-tissue_expression_and_exploration_PTEE_resource_facilitates_the_choice_of_tissue_for_RNA-seq-based_clinical_genetics_studies/16946378

الاتاحة: https://doi.org/10.6084/m9.figshare.16946378.v1

المؤلفون: Akhil Velluva (11659679), Maximillian Radtke (11659682), Susanne Horn (231432), Bernt Popp (512553), Konrad Platzer (483413), Erind Gjermeni (11659685), Chen-Ching Lin (380929), Johannes R. Lemke (3175583), Antje Garten (102778), Torsten Schöneberg (86992), Matthias Blüher (103713), Rami Abou Jamra (558384), Diana Le Duc (5151281)

مصطلحات موضوعية: Genetics, “ dynamic ”, study neurodevelopmental disorders, identified skeletal muscle, https :// bioinf, cause blind spots, identify expressed genes, cardiac arrhythmia genes, perform correlation analyses, used 54 tissues, conclusions ptee aids, also explored rna, annotated genes, tissues suitable, probed tissues, valuable method, success rate, resource facilitates, ptee ), good proxy, given pathology, gene expression, gene discovery, freely available, clinical genetics, circadian rhythm, based analyses

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Phenotype-tissue_expression_and_exploration_PTEE_resource_facilitates_the_choice_of_tissue_for_RNA-seq-based_clinical_genetics_studies/16946384

الاتاحة: https://doi.org/10.6084/m9.figshare.16946384.v1

المؤلفون: Lauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, Jamie Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S Alsaif, Aboulfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R DuPont, Raymond J Louie, CAUSES Study, Madeline Couse, Maha Faden, R Curtis Rogers, Rami Abou Jamra, Ellen R Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H Chahrour

المصدر: eLife, Vol 9 (2020)

مصطلحات موضوعية: autism spectrum disorder, forward genetics, chromatin regulator, vocalization, histone demethylase, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/56883; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/3b67c7165102417c8a9b719959887f98

المؤلفون: Luisa Averdunk, Khalid Al‐Thihli, Harald Surowy, Hermann‐Josef Lüdecke, Matthias Drechsler, Gökhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmüller, Tanja Guthoff, Michael Wallot, Peter Nürnberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al‐Maawali, Dagmar Wieczorek

المصدر: Clinical Genetics. 103:484-491

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fc8408e7430961b4e4d7e59ead5b2e3
https://doi.org/10.1111/cge.14290

المؤلفون: Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer

المصدر: European Journal of Human Genetics, 31, 3, pp. 345-352
European Journal of Human Genetics, 31, 345-352

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18a3345ffca1ec0467d702f7f8c63fd5
https://doi.org/10.1038/s41431-022-01269-6