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: Luca Pagliaroli, Patrizia Porazzi, Alyxandra T. Curtis, Chiara Scopa, Harald M. M. Mikkers, Christian Freund, Lucia Daxinger, Sandra Deliard, Sarah A. Welsh, Sarah Offley, Connor A. Ott, Bruno Calabretta, Samantha A. Brugmann, Gijs W. E. Santen, Marco Trizzino

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/d81d9aec3d4b4606a4380fcc57816cd2

المؤلفون: Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345

المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e984b4b7e89d4200874d3fcd3c269adc

المؤلفون: Khaled Atmar, Claudia A. L. Ruivenkamp, Louise Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, Arjan C. Lankester, Marije Bartels, Gijs W. E. Santen, Frans J. Smiers, Mirjam van der Burg, Alexander B. Mohseny

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: bone marrow failure, BMF, aplastic anemia, AA, cytopenia, next-generation sequencing, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.883826/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/021d8bd9944845ca8c30ccf0647fa945

المؤلفون: Alina Filatova, Linda K. Rey, Marion B. Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W. E. Santen, Dagmar Wieczorek, Ulrike A. Nuber

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/66e16b61abb241279ef0843df3598a01

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J, Schijns, Josephine M, Levy, Michael A, Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A, Williams, Ella M, Halliday, Benjamin J, Huisman, Sylvia A, Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F, Galazzi, Elena, van Gils, Julien, Hurst, Anna C E, Kaiser, Frank J, Lacombe, Didier, Martinez-Monseny, Antonio F, Fergelot, Patricia, Monteiro, Fabíola P, Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N, Alders, Mariëlle, Robertson, Stephen P, Sadikovic, Bekim, Menke, Leonie A The members of the MKHK Research Consortium are An- drea Angius, Janice A. Baker, Emma Bedoukian, Vikas Bhambhani, Olaf Bodamer, Alan O’Brien, Jill Clayton- Smith, Laura Crisponi, Anna Mar ́ıa Cueto Gonza ́lez, the DDD study, Koenraad Devriendt, Elena Dominguez Gar- rido, Nadja Ehmke, Albertien van Eerde, Annette P. M. van den Elzen, Laurence Faivre, Laura Fisher, Josue A. Flores- Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto Garc ́ıa-Min ̃au ́r, Livia Garavelli, That- jana Gardeitchik, Erica H. Gerkes, Julien van Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Riddervold Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilencikova, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, Maja Kovacevi, c, A. M. A. (Guus) Lachmeijer, Brendan Lanpher, Marine Lebrun, Eyby Leon, Angie Ward Lichty, Ruth Lin, Isabel Llano-Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia B. Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury-Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Pat- terson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Per- sico, Valentina Pes, Marzia Pollazzon, Thomas Potjer, Lor- raine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola K. Ragge, Jan Peter Rake, Conny M. A. van Ravenswaaij-Arts, Gillian Rea, Claudia Ruivenkamp, Au- drey Rutz, Sulagna C Saitta, Rossana Sanchez Russo, Gijs W. E. Santen, Elise Schaefer, Vandana Shashi, Laura Schultz-Rogers, Andrea Sluga, Stefano Sotgiu, Elisabeth Steichen-Gersdorf, Jennifer A. Sullivan, Yu Sun, Mohnish Suri, Marco Tartaglia, Matt Tedder, Paulien Terhal, Ian Tully, Nienke Verbeek, Maren Wenzel, Susan M. White, Bing Xiao.

المساهمون: Sadegheh, Haghshena, Hidde J, Bout, Josephine M, Schijn, Michael A, Levy, Jennifer, Kerkhof, Pratibha, Bhai, Haley, Mcconkey, Zandra A, Jenkin, Ella M, William, Benjamin J, Halliday, Sylvia A, Huisman, Peter, Lauffer, Vivian, de Waard, Laura, Witteveen, Siddharth, Banka, Angela F, Brady, Elena, Galazzi, Julien, van Gil, 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, Alder, Stephen P, Robertson, Bekim, Sadikovic, Menke, A The members of the MKHK Research Consortium are An- drea Angius, Leonie, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vika, Bodamer, Olaf, O’Brien, Alan, Clayton- Smith, Jill, Crisponi, Laura, Mar ́ıa Cueto Gonza ́lez, Anna, DDD study, The, Devriendt, Koenraad, Dominguez Gar- rido, Elena, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P. M., Faivre, Laurence, Fisher, Laura, Flores- Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, Garc ́ıa-Min ̃au ́r, Sixto, Garavelli, Livia, jana Gardeitchik, That-, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Gonzalez Garcia, Aixa, Riddervold Heimdal, Ketil, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovacevi, Maja, C, (Guus) Lachmeijer, A. M. A., Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Ward Lichty, Angie, Lin, Ruth, Llano-Rivas, Isabel, Ann Lynch, Sally, Maas, Saskia M., Maitz, Silvia B., Mckee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Pat- terson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Per- sico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thoma, raine Potocki, Lor-

مصطلحات موضوعية: CREB-binding protein, DNA methylation, E1A-associated protein p300, MKHK, Menke-Hennekam syndrome, Rubinstein-Taybi syndrome, episignature, intellectual disability, intrinsically disordered linker, zinc-finger domain

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; volume:5; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11386/4895476

الاتاحة: https://hdl.handle.net/11386/4895476
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld, Maria del Mar Mañú-Pereira

المصدر: Frontiers in Physiology, Vol 12 (2021)

مصطلحات موضوعية: unstable hemoglobinopathies, dominant beta-thalassemia, next generation sequencing, whole exome sequencing, rare anemia disorders, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2021.628236/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/ccdae50896004ad484f211a23535bb0c

المؤلفون: Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen

المصدر: Genes; Volume 12; Issue 8; Pages: 1275

مصطلحات موضوعية: ARID1B, Coffin–Siris syndrome, ACMG guidelines, inherited, familial, variable expression, non-pathogenic, intellectual disability

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12081275

الاتاحة: https://doi.org/10.3390/genes12081275

المؤلفون: Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Siddharth Banka, Bekim Sadikovic, Jill A. Fahrner

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

Relation: https://doi.org/10.1038/s41525-021-00269-7; https://doaj.org/toc/2056-7944; https://doaj.org/article/9827b109ef8940f7bf82494873e7341a

الاتاحة: https://doi.org/10.1038/s41525-021-00269-7
https://doaj.org/article/9827b109ef8940f7bf82494873e7341a

المؤلفون: Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt-Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke McKenna, Miroslava Hancarova, Sarka Bendova, Marketa Havlovicova, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariette J. V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti-Pierri, Nanda Rommelse, David G. Amaral, Gijs W. E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, The SPARK Consortium, Magnus Nordenskjöld, Corrado Romano, Hilde Peeters, Raphael A. Bernier, Jozef Gecz, Kun Xia, Evan E. Eichler

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

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-020-19289-5; https://doaj.org/toc/2041-1723; https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247

الاتاحة: https://doi.org/10.1038/s41467-020-19289-5
https://doaj.org/article/4f27d800b9ea4f9bbaecf063c4a12247

المؤلفون: Gijs W. E. Santen, Harry G. Leitch, Jan Cobben

المصدر: Human Mutation: Variation, Informatics and Disease, 43(8), 1082-1088. WILEY

مصطلحات موضوعية: in vivo, Phenotype, Genetics, Humans, rare diseases, gene-disease relationships, in vitro, HPO, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84beb69d7db3b0737af72b23ca46a527
https://doi.org/10.1002/humu.24367

المؤلفون: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, 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, Marco Ferilli, Robin S. Fletcher, Florian Cherick, 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 R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. 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 B. 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, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatrics, Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B., Levy, Michael A, Relator, Raissa, Mcconkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomare, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angu, Dupont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niel, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thoma, Kernohan, Kristin D, Mcneill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charle, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Human Genetics, General Paediatrics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446

مصطلحات موضوعية: DNA methylation, clinical diagnostics, Syndrome, DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes, neurodevelopmental syndromes, Epigenesis, Genetic, Neurodevelopmental Disorders, Genetics, Humans, CpG Islands, DNA, Intergenic, episignatures, Episignature, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf

المؤلفون: Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480

المؤلفون: Cacha M.P.C.D. Peeters-Scholte, Sylke J. Steggerda, Saskia Koene, Marije Meuwissen, Phebe N. Adama van Scheltema, Gijs W. E. Santen, Linda S. de Vries, Jeroen Knijnenburg

المصدر: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 185(2), 571-574. WILEY
American journal of medical genetics : part A

مصطلحات موضوعية: 0301 basic medicine, Intracerebral hemorrhage, Fetus, Clinical Report, business.industry, COL4A2, Cerebral hemorrhages, 030105 genetics & heredity, medicine.disease, Bioinformatics, Pathogenicity, Clinical Reports, Pathophysiology, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Genetics, antenatal intracerebral hemorrhage, Medicine, Human medicine, Risk factor, business, neonatal intracerbral haemorrhage, Genetics (clinical), Antenatal intracerebral hemorrhage

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6523aefc79dd04ce04d70cff8942689
https://doi.org/10.1002/ajmg.a.61988

المؤلفون: Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian

المصدر: European Journal of Human Genetics, 31, 97-104. SPRINGERNATURE

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3fd1cb260d1f202ffaee8cd0bfa728
https://pubmed.ncbi.nlm.nih.gov/36253531

المؤلفون: Charlotte A. Heinen, Monique Losekoot, Yu Sun, Peter J. Watson, Louise Fairall, Sjoerd D. Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L. T. van den Akker, Mariëlle Alders, Gijs W. E. Santen, Rick R. van Rijn, Wouter A. Dreschler, Olga V. Surovtseva, Nienke R. Biermasz, Raoul C. Hennekam, Jan M. Wit, John W. R. Schwabe, Anita Boelen, Eric Fliers, A. S. Paul van Trotsenburg

مصطلحات موضوعية: Uncategorized, IR content

Relation: 2381/39584; https://figshare.com/articles/journal_contribution/Mutations_in_TBL1X_Are_Associated_With_Central_Hypothyroidism_/10195592

الاتاحة: https://figshare.com/articles/journal_contribution/Mutations_in_TBL1X_Are_Associated_With_Central_Hypothyroidism_/10195592

المؤلفون: Michiel J van Esdonk, Gijs W. E. Santen, Matthijs D. Kruizinga, Rob Zuiker, Adam F. Cohen, Kirsten R. Bergmann, Annelies C. Egas

المصدر: British Journal of Clinical Pharmacology, 88(5), 2236-2245. WILEY

مصطلحات موضوعية: Saliva, Population, Vulnerable Populations, Pharmacokinetics, Oral administration, noninvasive, medicine, Humans, Pharmacology (medical), population model, Child, education, clonazepam, plasma, Pharmacology, education.field_of_study, saliva, Chromatography, Chemistry, Bayes Theorem, nonmem, Clonazepam, NONMEM, Pharmacodynamics, epilepsy, pharmacokinetics, Blood drawing, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b12505200af976605b83abf1f1c0c3
https://hdl.handle.net/1887/3256858

المؤلفون: Khaled Atmar, Claudia A. L. Ruivenkamp, Louise Hooimeijer, Esther A. R. Nibbeling, Corien L. Eckhardt, Elise J. Huisman, Arjan C. Lankester, Marije Bartels, Gijs W. E. Santen, Frans J. Smiers, Mirjam van der Burg, Alexander B. Mohseny

مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, bone marrow failure, BMF, aplastic anemia, AA, cytopenia, next-generation sequencing, diagnostics

Relation: https://figshare.com/articles/dataset/Table_1_Diagnostic_Value_of_a_Protocolized_In-Depth_Evaluation_of_Pediatric_Bone_Marrow_Failure_A_Multi-Center_Prospective_Cohort_Study_xlsx/19665714

الاتاحة: https://doi.org/10.3389/fimmu.2022.883826.s002
https://figshare.com/articles/dataset/Table_1_Diagnostic_Value_of_a_Protocolized_In-Depth_Evaluation_of_Pediatric_Bone_Marrow_Failure_A_Multi-Center_Prospective_Cohort_Study_xlsx/19665714

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