المؤلفون: Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke

المصدر: HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000770; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/517d9e08a39d40259779aac3fa7232af

المؤلفون: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

مصطلحات موضوعية: Genome sequencing, Rare diseases, Structural variant, Splice site variant, Non-coding, Diagnostic yield, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

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: Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/78105606e072432f9749da08dbbd20b7

المؤلفون: Laura Furness, Phil Riley, Neville Wright, Siddharth Banka, Stephen Eyre, Adam Jackson, Tracy A. Briggs

المصدر: Pediatric Rheumatology Online Journal, Vol 20, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Juvenile idiopathic arthritis, Mimics, Multicentric carpotarsal osteolysis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Blau syndrome, Monogenic, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/3fbdcebb66a84c909f04bc2cf71d7c4d

المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, 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, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, 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, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, 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, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, 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, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

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: Valeria Barili, Enrico Ambrosini, Vera Uliana, Melissa Bellini, Giulia Vitetta, Davide Martorana, Ilenia Rita Cannizzaro, Antonietta Taiani, Erika De Sensi, Patrizia Caggiati, Sarah Hilton, Siddharth Banka, Antonio Percesepe

المصدر: Genes, Vol 14, Iss 6, p 1241 (2023)

مصطلحات موضوعية: neurodevelopmental disorders, Cornelia de Lange syndrome, MEIS2, Kabuki syndrome, Kleefstra syndrome, episignature, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/14/6/1241; https://doaj.org/toc/2073-4425; https://doaj.org/article/71520baac815463081c6dd306c9eb933

الاتاحة: https://doi.org/10.3390/genes14061241
https://doaj.org/article/71520baac815463081c6dd306c9eb933

المؤلفون: Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/c447334b912746929ee920eb4139f48f

المؤلفون: Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e484f6bf742d4dfaa468f76258820800

المؤلفون: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: European reference network, Developmental disorders, Telemedicine, Rare disease, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1349-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d1bebb0fda4546c08ace4997751a80ac

المؤلفون: Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi, Jenny C Taylor, Gabriela Oprea, Volha Skrahin, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G El Said, Mohamed S Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y Issa, Hasnaa M Elbendary, Karima Rafat, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, SYNAPS Study Group, Aida Bertoli-Avella, Alistair T Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K Chung, Rachel Green, Fowzan S Alkuraya, James E C Jepson, Henry Houlden, Rosaria Nardello

المساهمون: Vincenzo Salpietro, Reza Maroofian, Maha S Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi , Jenny C Taylor, Gabriela Oprea, Volha Skrahin, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G El Said, Mohamed S Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y Issa, Hasnaa M Elbendary, Karima Rafat, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, SYNAPS Study Group, Aida Bertoli-Avella, Alistair T Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K Chung, Rachel Green, Fowzan S Alkuraya, James E C Jepson, Henry Houlden, Rosaria Nardello

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001158522000001; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/10447/638705; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الاتاحة: https://hdl.handle.net/10447/638705
https://doi.org/10.1016/j.ajhg.2023.11.012

المؤلفون: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000567; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/625f01b427784d528fd75cff511b4125

المؤلفون: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)

مصطلحات موضوعية: genotype-phenotype correlation, skeletal dysplasia, HPO terms, quantitative phenotyping cluster heatmap, molecular diagnosis, traits and OMIM clinical synopsis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000555; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/111938d44884445f92d7831c96a453cf

المؤلفون: Jose I. R. Ciancio, Mark Furman, Siddharth Banka, Stephanie Grunewald

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 43-47 (2019)

مصطلحات موضوعية: Cubilin, Imerslund‐Gräsbeck syndrome, tubular proteinuria, vitamin B12 malabsorption, vitamin D deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/7aec8fbc282941f49877c204f0f051c8

المؤلفون: Domagoj Cikes, Kareem Elsayad, Erdinc Sezgin, Erika Koitai, Ferenc Torma, Michael Orthofer, Rebecca Yarwood, Leonhard X. Heinz, Vitaly Sedlyarov, Nasser Darwish Miranda, Adrian Taylor, Sophie Grapentine, Fathiya al-Murshedi, Anne Abot, Adelheid Weidinger, Candice Kutchukian, Colline Sanchez, Shane J. F. Cronin, Maria Novatchkova, Anoop Kavirayani, Thomas Schuetz, Bernhard Haubner, Lisa Haas, Astrid Hagelkruys, Suzanne Jackowski, Andrey V. Kozlov, Vincent Jacquemond, Claude Knauf, Giulio Superti-Furga, Eric Rullman, Thomas Gustafsson, John McDermot, Martin Lowe, Zsolt Radak, Jeffrey S. Chamberlain, Marica Bakovic, Siddharth Banka, Josef M. Penninger

المصدر: Nature Metabolism. 5:495-515

مصطلحات موضوعية: Physiology (medical), Endocrinology, Diabetes and Metabolism, Internal Medicine, Cell Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da34f24f3940a36e20050423638f3b07
https://doi.org/10.1038/s42255-023-00766-2

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_5_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643218

الاتاحة: https://doi.org/10.6084/m9.figshare.14643218.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_7_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643230

الاتاحة: https://doi.org/10.6084/m9.figshare.14643230.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_10_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643194

الاتاحة: https://doi.org/10.6084/m9.figshare.14643194.v1

المؤلفون: Ilaria Mannucci (10846013), Nghi D. P. Dang (10846016), Hannes Huber (10846019), Jaclyn B. Murry (7840778), Jeff Abramson (3737131), Thorsten Althoff (10846022), Siddharth Banka (8432901), Gareth Baynam (540274), David Bearden (10846025), Ana Beleza-Meireles (88252), Paul J. Benke (10846028), Siren Berland (10846031), Tatjana Bierhals (8582361), Frederic Bilan (10846034), Laurence A. Bindoff (10846037), Geir Julius Braathen (10846040), Øyvind L. Busk (10846043), Jirat Chenbhanich (10846046), Jonas Denecke (3853057), Luis F. Escobar (10846049), Caroline Estes (10846052), Julie Fleischer (10846055), Daniel Groepper (175666), Charlotte A. Haaxma (10846058), Maja Hempel (8582370), Yolanda Holler-Managan (10846061), Gunnar Houge (76497), Adam Jackson (6637928), Laura Kellogg (10846064), Boris Keren (374547), Catherine Kiraly-Borri (10846067), Cornelia Kraus (3272667), Christian Kubisch (4796430), Gwenael Le Guyader (10846070), Ulf W. Ljungblad (10846073), Leslie Manace Brenman (10846076), Julian A. Martinez-Agosto (10329686), Matthew Might (8356293), David T. Miller (10846079), Kelly Q. Minks (10846082), Billur Moghaddam (10846085), Caroline Nava (529842), Stanley F. Nelson (10329689), John M. Parant (10846088), Trine Prescott (10846091), Farrah Rajabi (10846094), Hanitra Randrianaivo (248063), Simone F. Reiter (10846097), Janneke Schuurs-Hoeijmakers (3546701), Perry B. Shieh (10846100), Anne Slavotinek (78604), Sarah Smithson (3180642), Alexander P. A. Stegmann (4534969), Kinga Tomczak (10846103), Kristian Tveten (10846106), Jun Wang (5906), Jordan H. Whitlock (10846109), Christiane Zweier (478497), Kirsty McWalter (10846112), Jane Juusola (286251), Fabiola Quintero-Rivera (273329), Utz Fischer (146680), Nan Cher Yeo (3738970), Hans-Jürgen Kreienkamp (262726), Davor Lessel (10846115)

مصطلحات موضوعية: Genetics, ATP-dependent RNA helicase, Facebook-based family support group, HCM missense variants, individual, 293T, helicase core motifs, novel Mendelian disorders, DHX 30-associated neurodevelopmenta., DHX 30 loss-of-function variants cause, helicase activity, HEK, SG formation, mosaic HCM missense variant, dhx 30-deficient zebrafish, novel missense variants, CRISPR

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Genotype_phenotype_correlations_and_novel_molecular_insights_into_the_DHX30-associated_neurodevelopmental_disorders/14643209

الاتاحة: https://doi.org/10.6084/m9.figshare.14643209.v1