المؤلفون: 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

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, loss-of-function, cohesin, CdLS3, LoF, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000125; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/be0b7360900245738bb5fa3eedf88913

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: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen Christian, olve-RD consortium: Olaf Riess, Tobias B Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A C 't Hoen, Lisenka E L M Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris Te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek Jr, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter de Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A Swertz, Lennart Johansson, Joeri K van der Velde, Gerben van der Vries, Pieter B Neerincx, David Ruvolo, Kristin M Abbott, Wilhemina SKerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Marielle van Gijn, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Caroline Rooryck, Didier Lacombe, Aurelien Trimouille, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Simone Furini, Chiara Fallerini, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Francina Munell, Clara Franco Jarava, Laura Batlle Masó, Anna Marcé-Grau, Roger Colobran, Andrés Nascimento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, Bodo Grimbacher, David Beeson, Judith Cossins, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Patrick F Chinnery, Thiloka Ratnaike, Fei Gao, Katherine Schon, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump, Ayşe Nazlı Başak, Dimitri Hemelsoet, Bart Dermaut, Nika Schuermans, Bruce Poppe, Hannah Verdin, Davide Mei, Annalisa Vetro, Simona Balestrini, Renzo Guerrini, Kristl Claeys, Gijs W E Santen, Emilia K Bijlsma, Mariette J V Hoffer, Claudia A L Ruivenkamp, Kaan Boztug, Matthias Haimel, Isabelle Maystadt, Isabelle Cordts, Marcus Deschauer, Ioannis Zaganas, Evgenia Kokosali, Mathioudakis Lambros, Athanasios Evangeliou, Martha Spilioti, Elisabeth Kapaki, Mara Bourbouli, Pasquale Striano, Federico Zara, Antonella Riva, Michele Iacomino, Paolo Uva, Marcello Scala, Paolo Scudieri, Maria-Roberta Cilio, Evelina Carpancea, Chantal Depondt, Damien Lederer, Yves Sznajer, Sarah Duerinckx, Sandrine Mary, Christel Depienne, Andreas Roos, Patrick May

المساهمون: Burcu, Yaldiz, Erdi, Kucuk, Juliet, Hampstead, Tom, Hofste, Rolph, Pfundt, Jordi, Corominas Galbany, Tuula, Rinne, Helger G, Yntema, Alexander, Hoischen, Marcel, Nelen, Christian, Gilissen, consortium: Olaf Riess, olve-RD, B Haack, Tobia, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, M Schulze-Hentrich, Julia, Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, C 't Hoen, Peter A, M Vissers, Lisenka E L, Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, M de Voer, Richarda, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Te Paske, Iri, Janssen, Erik, de Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, J Brookes, Anthony, Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Yavari Dizjikan, Farid, Shorter, Thoma, Töpf, Ana, Straub, Volker, Marini Bettolo, Chiara, Diaz Manera, Jordi, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Glynne Gut, Ivo, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle, Picó, Daniel, Paramonov, Ida, Lochmüller, Hann, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni

مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37138343; info:eu-repo/semantics/altIdentifier/wos/WOS:000979939700001; volume:17; issue:1; numberofpages:9; journal:HUMAN GENOMICS; https://hdl.handle.net/11365/1264554; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158030412; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

الاتاحة: https://hdl.handle.net/11365/1264554
https://doi.org/10.1186/s40246-023-00485-5
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10155375/

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/576f63e2c30d40a9aa5dc30cab4f03f1

المؤلفون: Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs

المصدر: HGG Advances, Vol 2, Iss 4, Pp 100049- (2021)

مصطلحات موضوعية: AHDC1, Xia-Gibbs syndrome, missense mutation, de novo mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000300; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/2e89a4ca268f4c13b0e4310f9b45e168

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: Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela Jones, Violeta Mikštienė, Eglė Preikšaitienė, Louise Thompson, Katrina Tatton-Brown

المصدر: Clinical Dysmorphology. 32:49-54

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8333425eaa167ab3fd367cf0a6a84320
https://doi.org/10.1097/mcd.0000000000000455

المؤلفون: Yil Severijns, Maartje W. F. Heijmans, Christine E. M. de Die‐Smulders, Emilia K. Bijlsma, Nicole Corsten‐Janssen, Sara J. R. Joosten, Sander M. J. van Kuijk, Klaske D. Lichtenbelt, Cecile P. E. Ottenheim, Kyra E. Stuurman, Gita M. B. Tan‐Sindhunata, Hein de Vries, Liesbeth A. D. M. van Osch

المساهمون: Clinical Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), Health promotion, RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), Epidemiologie, MUMC+: KIO Kemta (9), RS: CAPHRI - R2 - Creating Value-Based Health Care, RS: CAPHRI - R6 - Promoting Health & Personalised Care

المصدر: Severijns, Y, Heijmans, M W F, de Die-Smulders, C E M, Bijlsma, EK, Corsten-Janssen, N, Joosten, S J R, van Kuijk, S M J, Lichtenbelt, K D, Ottenheim, C P E, Stuurman, K E, Tan-Sindhunata, G M B, de Vries, H & van Osch, L A D M 2022, ' The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples—A pilot study ', Journal of Genetic Counseling . https://doi.org/10.1002/jgc4.1631
Journal of Genetic Counseling, 32, 153-65
Journal of Genetic Counseling, 32(1), 153-165. Human Sciences Press/Kluwer Academic
Journal of Genetic Counseling. WILEY
Journal of Genetic Counseling
Journal of Genetic Counseling. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 32, 1, pp. 153-65
Journal of Genetic Counseling. Wiley
Journal of genetic counseling, 32(1). SPRINGER

مصطلحات موضوعية: HEREDITARY BREAST, PARTNERS, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], genetic counseling, INFORMATION, decision aid, DIAGNOSIS, CANCER, decisional conflict, OPTIONS, reproductive genetics, (joint informed) decision-making, PREGNANT-WOMEN, preimplantation genetic testing (PGT), Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a197f3a14cbf5646f18f0a38f716385c
https://doi.org/10.1002/jgc4.1631

المؤلفون: Mayke Oosterloo, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A. C. Roos

المصدر: Brain Sciences; Volume 10; Issue 3; Pages: 155

مصطلحات موضوعية: juvenile Huntington’s disease, pediatric Huntington’s disease, early-onset Huntington’s disease, personal experiences, caregivers

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/brainsci10030155

الاتاحة: https://doi.org/10.3390/brainsci10030155

المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics

المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

مصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

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

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, obesity, CUL4B

Relation: https://figshare.com/articles/dataset/Table1_PHIP-associated_Chung-Jansen_syndrome_Report_of_23_new_individuals_xlsx/21905250

الاتاحة: https://doi.org/10.3389/fcell.2022.1020609.s001
https://figshare.com/articles/dataset/Table1_PHIP-associated_Chung-Jansen_syndrome_Report_of_23_new_individuals_xlsx/21905250

المؤلفون: Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C Caylor, Roger E Stevenson, Caio Robledo D' Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer M Bain, Kwame Anyane-Yeboa, Kaitlyn Brown, John M Greally, Emilia K Bijlsma, Claudia A L Ruivenkamp, Keren Politi, Lydia A Arbogast, Michael W Collard, Jodi I Huggenvik, Sarah H Elsea, Philip J Jensik

المصدر: Hum Mol Genet
Human Molecular Genetics, 32(3), 386-401. OXFORD UNIV PRESS

مصطلحات موضوعية: Genetics, Original Article, General Medicine, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce133e0cb7ab0932b2f68c883c636406
https://hdl.handle.net/1887/3563136

المؤلفون: Jennifer A. Collins, Emilia K. Bijlsma, Chris Kay, Huu Phuc Nguyen, Nicholas S. Caron, Ferdinando Squitieri, Galen E.B. Wright, Hailey Findlay Black, Michael R. Hayden, Larissa Arning, Qingwen Xia

المصدر: Genetics in Medicine
Genetics in Medicine, 22(12), 2108-2113. SPRINGERNATURE

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Huntingtin Protein, business.industry, repeat expansion, Penetrance, Disease, genetic modifiers, Brief Communication, reduced penetrance, Gastroenterology, age of onset, Huntington Disease, Trinucleotide Repeats, Internal medicine, Medicine, Humans, Age of onset, business, Trinucleotide repeat expansion, Codon, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482b5fe1482dc0004d9f4059ef63a4d7
http://europepmc.org/articles/PMC7708297

المؤلفون: Ashley N. Sigafoos, Salima El Chehadeh, Marcia C. Willing, Ela Akay, Florian Cherik, Anne-Marie E. Goyette, Vinodh Narayanan, Diane Masser-Frye, Catherine Karimov, Rhonda E. Schnur, Rebekah Bressi, Rhys H. Thomas, Gary D. Clark, Tina Barbaro-Dieber, Jill A. Rosenfeld, Carlos A. Bacino, Maria J. Guillen Sacoto, Laura Russell, Kristin Lindstrom, Caroline Schluth-Bolard, Xia Wang, Yvonne Hilhorst-Hofstee, Marcelo Vargas, Zehua Zhu, Ash Zawerton, Boris Keren, Mariëtte J.V. Hoffer, Isabelle Marey, Alice Poisson, Daphné Lehalle, Maries Joseph, Gaetan Lesca, Simon Zwolinski, Laurence Perrin, Rhoda Akilapa, Emilia K. Bijlsma, Christel Depienne, Amélie Piton, Claire G. Salter, Lucie Dupuis, Daryl A. Scott, Jolien S. Klein Wassink-Ruiter, Benjamin Cogné, Mathilde Nizon, Richard Chang, Kirsty McWalter, Myriam Srour, Perrine Charles, Anne-Claude Tabet, Natalie Canham, Sylvie Odent, Caroline Nava, Karl J. Clark, Elizabeth J. Bhoj, Jonathan Levy, Keri Ramsey, Yves Alembik, Lucia Ortega, Sophie Dupuis-Girod, Shoji Ichikawa, Christine Francannet, Marta Bertoli, Christèle Dubourg, Eric W. Klee, Ange-Line Bruel, Sebastien Moutton, Emily Fassi, Anthony Vandersteen, Abdul Haseeb, Antonina Wojcik, Patrick R. Blackburn, Lynne M. Bird, Patrick Rump, Véronique Lefebvre, Alma Kuechler, Sophie Nambot, Keren Machol, Cyril Mignot, Andreas Hartmann, Rossana Sanchez Russo, Erica H. Gerkes, Sylvie Jaillard, Roberto Mendoza-Londono, Trevor Cole, Pauline Monin

المساهمون: Cleveland Clinic, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Centre d'Etude et de Recherche Multimodal Et Pluridisciplinaire en imagerie du vivant (CERMEP - imagerie du vivant), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et Développement de Rennes (IGDR), 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 ), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), 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), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, This research was funded in part by the Agence Nationale de la Recherche and European High-Functioning Autism Network (ANR EUHFAUTISM), the Assistance Publique–Hôpitaux de Paris (AP-HP), the Institut National de la Santé et de la Recherche Médicale (INSERM), the BioPsy labex (to Christel Depienne and C.N.) and the Association Française du Syndrome Gilles de la Tourette (AFSGT) to Christel Depienne. It was also funded by the Cleveland Clinic Lerner Research Institute (LRI Chair’s Innovative Research Award to V.L.), and by Harper’s Quest and the LAMSHF Syndrome Research Fund (donations to V.L.) and the Center for Individualized Medicine, Mayo Clinic. This study makes use of data generated by the DECIPHER community and the Deciphering Developmental Disorders (DDD) Study, which is funded by the Wellcome Trust. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network., We thank the patients and their families for their participation in this study, and the C4RCD Research Group (Newell Belnap, Amanda Courtright, Ana Claasen, David Craig, Matt Huentelman, Madison LaFleur, Sampathkumar Rangasamy, Ryan Richholt, Isabelle Schrauwen, Ashley L. Siniard, and Szabolics Szelinger) for providing clinical information on patient P18., Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre d'Exploration et de Recherche Médicales par Émission de Positons (CERMEP), Université Joseph Fourier - Grenoble 1 (UJF)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-CHU Grenoble-Hospices Civils de Lyon (HCL)-CHU Saint-Etienne-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 3
Genetics in Medicine, 22(3), 524-537. Nature Publishing Group
Genet Med
Genetics in Medicine, 22(3), 524-537. NATURE PUBLISHING GROUP

مصطلحات موضوعية: Male, Medizin, Haploinsufficiency, L-SOX5, VARIANTS, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Genetics, Pediatric, Genetics & Heredity, 0303 health sciences, Pedigree, FAMILY, DNA-Binding Proteins, developmental delay, TRANSCRIPTION FACTORS, Phenotype, intellectual disability, Child, Preschool, missense variants, Female, SOXD Transcription Factors, Adult, EXPRESSION, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Mutation, Missense, autism, Cell fate determination, Biology, LONG FORM, SEQUENCE, Article, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, CARTILAGE, Intellectual Disability, medicine, Animals, Humans, Language Development Disorders, Genetic Predisposition to Disease, Preschool, Transcription factor, Gene, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MUTATIONS, Human Genome, Infant, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, Deciphering Developmental Disorder Study, Mutation, Autism, epilepsy, Missense, 030217 neurology & neurosurgery, GENERATION

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e572914cd3ed1c6195ff6874c9228a5a
https://doi.org/10.1038/s41436-019-0657-0

المؤلفون: Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, Emilia K. Bijlsma, Tamara T. Koopmann, Mariette J. V. Hoffer, Kimberly McDonald, Laura G. Hendon, Sofia Douzgou, Charulata Deshpande, Stefano D'Arrigo, Annalaura Torella, Vincenzo Nigro, Brunella Franco, Nicola Brunetti‐Pierri

المساهمون: Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K, Koopmann, Tamara T, Hoffer, Mariette J V, Mcdonald, Kimberly, Hendon, Laura G, Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti-Pierri, Nicola

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190(1), 102-108. WILEY

مصطلحات موضوعية: Male, duodenal atresia, Stromme syndrome, Chromosomal Proteins, Non-Histone, Microfilament Proteins, Intestinal Atresia, CENPF, cilia, Eye Abnormalitie, Phenotype, Strømme syndrome, Intellectual Disability, Mutation, Microcephaly, Genetics, Humans, Female, anterior chamber defect, Eye Abnormalities, Genetics (clinical), Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddf9bad38026bc592a0812112ef22475
https://hdl.handle.net/1887/3561447

المؤلفون: Glenda M, Beaman, Filipa M, Lopes, Aybike, Hofmann, Wolfgang, Roesch, Martin, Promm, Emilia K, Bijlsma, Chirag, Patel, Aykut, Akinci, Berk, Burgu, Jeroen, Knijnenburg, Gladys, Ho, Christina, Aufschlaeger, Sylvia, Dathe, Marie Antoinette, Voelckel, Monika, Cohen, Wyatt W, Yue, Helen M, Stuart, Edward A, Mckenzie, Mark, Elvin, Neil A, Roberts, Adrian S, Woolf, William G, Newman

المصدر: Frontiers in genetics. 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::59ae0b21c94e05f2536463f5a7b0e8bf
https://pubmed.ncbi.nlm.nih.gov/35812751

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s002
https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s003
https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279

المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease

Relation: https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273

الاتاحة: https://doi.org/10.3389/fgene.2022.896125.s001
https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273

المؤلفون: Maayke A. de Koning, Emilia K. Bijlsma, Esther A. R. Nibbeling, Phebe N. Adama‐Scheltema, E J T Joanne Verweij, Cacha M.P.C.D. Peeters-Scholte, Mariëtte J.V. Hoffer, Marieke B. Veenhof, Gijs W. E. Santen, Menno J. P. Toirkens

المصدر: Clinical Genetics, 101(1), 65-77. WILEY

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, prenatal, fetal neurology, Clinical Decision-Making, Nervous System Malformations, Corpus callosum, Ultrasonography, Prenatal, Consanguinity, Prenatal ultrasound, Fetus, CNS malformation, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Cns anomalies, Neurologists, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Pregnancy Outcome, Disease Management, medicine.disease, Hypoplasia, body regions, counseling, Agenesis, Female, Late termination of pregnancy, business, human activities, exome sequencing

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba07cbba6c9e2fac274ebaa0db86665
https://hdl.handle.net/1887/3249467