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

مصطلحات موضوعية: CHUJANS, CUL4B, Chung-Jansen syndrome, DD, DIDOD syndrome, ID, PHIP, obesity, info:eu-repo/classification/ddc/570, ddc:570

الاتاحة: https://ul.qucosa.de/id/qucosa%3A95216
https://ul.qucosa.de/api/qucosa%3A95216/attachment/ATT-0/

المؤلفون: Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart

مصطلحات موضوعية: BBS, genotype, phenotype, ophthalmology, info:eu-repo/classification/ddc/610, ddc:610

Relation: 1218

الاتاحة: https://ul.qucosa.de/id/qucosa%3A87860
https://ul.qucosa.de/api/qucosa%3A87860/attachment/ATT-0/

المؤلفون: Laurie, Steven, Steyaert, Wouter, de Boer, Elke, Polavarapu, Kiran, Schuermans, Nika, Sommer, Anna K., Demidov, German, Ellwanger, Kornelia, Paramonov, Ida, Thomas, Coline, Aretz, Stefan, Baets, Jonathan, Benetti, Elisa, Bullich, Gemma, Chinnery, Patrick F., Clayton-Smith, Jill, Cohen, Enzo, Danis, Daniel, de Sainte Agathe, Jean-Madeleine, Denommé-Pichon, Anne-Sophie, Diaz-Manera, Jordi, Efthymiou, Stephanie, Faivre, Laurence, Fernandez-Callejo, Marcos, Freeberg, Mallory, Garcia-Pelaez, José, Guillot-Noel, Lena, Haack, Tobias B., Hanna, Mike, Hengel, Holger, Horvath, Rita, Houlden, Henry, Jackson, Adam, Johansson, Lennart, Johari, Mridul, Kamsteeg, Erik-Jan, Kellner, Melanie, Kleefstra, Tjitske, Lacombe, Didier, Lochmüller, Hanns, López-Martín, Estrella, Macaya, Alfons, Marcé-Grau, Anna, Maver, Aleš, Morsy, Heba, Muntoni, Francesco, Musacchia, Francesco, Nelson, Isabelle, Nigro, Vincenzo, Olimpio, Catarina

المصدر: Nature Medicine ; ISSN 1078-8956 1546-170X

الاتاحة: https://doi.org/10.1038/s41591-024-03420-w
https://www.nature.com/articles/s41591-024-03420-w.pdf
https://www.nature.com/articles/s41591-024-03420-w

المؤلفون: Buchert, Rebecca, Burkhalter, Martin D., Huridou, Chrisovalantou, Sofan, Linda, Roser, Timo, Cremer, Kirsten, Alvi, Javeria Raza, Efthymiou, Stephanie, Froukh, Tawfiq, Gulieva, Sughra, Guliyeva, Ulviyya, Hamdallah, Moath, Holder-Espinasse, Muriel, Kaiyrzhanov, Rauan, Klingler, Doreen, Koko, Mahmoud, Matthies, Lars, Park, Joohyun, Sturm, Marc, Velic, Ana, Spranger, Stephanie, Sultan, Tipu, Engels, Hartmut, Lerche, Holger, Houlden, Henry, Pagnamenta, Alistair T., Borggraefe, Ingo, Weber, Yvonne, Bonnen, Penelope E., Maroofian, Reza, Riess, Olaf, Weber, Jonasz J., Philipp, Melanie, Haack, Tobias B.

المساهمون: National Institute of Neurological Disorders and Stroke, European Commission, German Academic Exchange Service, Marathon Foundation of Tv3, UK Research and Innovation Medical Research Council, German Research Foundation, Wellcome Trust

المصدر: The American Journal of Human Genetics ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2024.12.019
https://api.elsevier.com/content/article/PII:S0002929724004610?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724004610?httpAccept=text/plain

المؤلفون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, De Voer, Richarda M., Kamsteeg, Erik-Jan, Van De Warrenburg, Bart, Van Os, Nienke, Te Paske, Iris, Janssen, Erik, De Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Dolealová, Pavla, Parkinson, Helen, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, De Vries, Geert, De Winter, Jonathan, Beijer, Danique, De Jonghe, Peter, Van De Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Garcia-Pelaez, Jose, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Van Der Velde, Joeri K., Abbott, Kristin M., Frederikse, Wilhemina S. Kerstjens, Zonneveld-Huijssoon, Eveline, Van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, De Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De La Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, EstrellaLópez, Delgado, Beatriz Martínez, De La Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, De Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazll, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabell, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick

المساهمون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marco, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloe, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thoma, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, De Voer, Richarda M., Kamsteeg, Erik-Jan, Van De Warrenburg, Bart, Van Os, Nienke, Te Paske, Iri, Janssen, Erik, De Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, Shorter, Thoma, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, 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, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle

مصطلحات موضوعية: bioinformatic, computational biology, fair data, genetic, infrastructure, rare disease

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/39302238; info:eu-repo/semantics/altIdentifier/wos/WOS:001350076800001; volume:13; numberofpages:14; journal:GIGASCIENCE; https://hdl.handle.net/11365/1277024; https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

الاتاحة: https://hdl.handle.net/11365/1277024
https://doi.org/10.1093/gigascience/giae058
https://academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae058/7762471?login=true
https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

المؤلفون: Bodenbender, Jan-Philipp, Marino, Valerio, Philipp, Julia, Tropitzsch, Anke, Kernstock, Christoph, Stingl, Katarina, Kempf, Melanie, Haack, Tobias B, Zuleger, Theresia, Mazzola, Pascale, Kohl, Susanne, Weisschuh, Nicole, Dell'Orco, Daniele, Kühlewein, Laura

المساهمون: Bodenbender, Jan-Philipp, Marino, Valerio, Philipp, Julia, Tropitzsch, Anke, Kernstock, Christoph, Stingl, Katarina, Kempf, Melanie, Haack, Tobias B, Zuleger, Theresia, Mazzola, Pascale, Kohl, Susanne, Weisschuh, Nicole, Dell'Orco, Daniele, Kühlewein, Laura

مصطلحات موضوعية: TUBB4B, Hearing loss, Hereditary retinal dystrophy, Leber congenital amaurosis, Retinitis pigmentosa, Structural analysis

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38719929; info:eu-repo/semantics/altIdentifier/wos/WOS:001216508100050; volume:14; firstpage:1; lastpage:13; numberofpages:13; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/11562/1126169; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85192386822; https://doi.org/10.1038/s41598-024-61019-0

الاتاحة: https://hdl.handle.net/11562/1126169
https://doi.org/10.1038/s41598-024-61019-0

المؤلفون: Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Cell Movement, Child, Child, Preschool, Drosophila, Female, Fibroblasts, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Mice, Knockout, Neoplasm Proteins, Neurodevelopmental Disorders, Pedigree, Proteome, Young Adult, Care4Rare Canada Consortium, Genomics England Research Consortium, BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rn0f207
https://escholarship.org/content/qt7rn0f207/qt7rn0f207.pdf

المؤلفون: Berger, Eva, Jauss, Robin-Tobias, Ranells, Judith D., Zonic, Emir, von Wintzingerode, Lydia, Wilson, Ashley, Wagner, Johannes, Tuttle, Annabelle, Thomas-Wilson, Amanda, Schulte, Björn, Rabin, Rachel, Pappas, John, Odgis, Jacqueline A., Muthaffar, Osama, Mendez-Fadol, Alejandra, Lynch, Matthew, Levy, Jonathan, Lehalle, Daphné, Lake, Nicole J., Krey, Ilona, Kozenko, Mariya, Knierim, Ellen, Jouret, Guillaume, Jobanputra, Vaidehi, Isidor, Bertrand, Hunt, David, Hsieh, Tzung-Chien, Holtz, Alexander M., Haack, Tobias B., Gold, Nina B., Dunstheimer, Désirée, Donge, Mylène, Deb, Wallid, De La Rosa Poueriet, Katlin A., Danyel, Magdalena, Christodoulou, John, Chopra, Saurabh, Callewaert, Bert, Busche, Andreas, Brick, Lauren, Bigay, Bary G., Arlt, Marie, Anikar, Swathi S., Almohammal, Mohammad N., Almanza, Deanna, Alhashem, Amal, Bertoli-Avella, Aida, Sticht, Heinrich, Jamra, Rami Abou

المصدر: Genetics in Medicine ; page 101326 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101326
https://api.elsevier.com/content/article/PII:S1098360024002600?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024002600?httpAccept=text/plain

المؤلفون: Schmid, Cosima M, Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B, Falb, Ruth J, Müller, Amelie J, Linden, Tobias, Haldeman-Englert, Chad R, Ockeloen, Charlotte W, Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer Alisha, Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M, Elloumi, Houda Z, Person, Richard, Zou, Fanggeng, Kahle, Juliette J, Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M, Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J M, Elshafie, Reem M, Alsharhan, Hind, Hillman, Paul R, Dunnington, Leslie A, Braakman, Hilde M H, McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S, Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tumer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G, Abreu, Nicolas J, Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, Zweier, Christiane

المصدر: Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer Alisha; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, ....

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), Autism spectrum disorders, Genetics research

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf; info:pmid/39668183; urn:issn:1018-4813

الاتاحة: https://www.zora.uzh.ch/id/eprint/266396/
https://www.zora.uzh.ch/id/eprint/266396/1/s41431_024_01760_2.pdf

المؤلفون: Caldi Gomes, Lucas, Hänzelmann, Sonja, Hausmann, Fabian, Khatri, Robin, Oller, Sergio, Parvaz, Mojan, Tzeplaeff, Laura, Pasetto, Laura, Gebelin, Marie, Ebbing, Melanie, Holzapfel, Constantin, Columbro, Stefano Fabrizio, Scozzari, Serena, Knöferle, Johanna, Cordts, Isabell, Demleitner, Antonia F, Deschauer, Marcus, Dufke, Claudia, Sturm, Marc, Zhou, Qihui, Zelina, Pavol, Sudria-Lopez, Emma, Haack, Tobias B, Streb, Sebastian, Kuzma-Kozakiewicz, Magdalena, Edbauer, Dieter, Pasterkamp, R Jeroen, Laczko, Endre, Rehrauer, Hubert, Schlapbach, Ralph

المصدر: Caldi Gomes, Lucas; Hänzelmann, Sonja; Hausmann, Fabian; Khatri, Robin; Oller, Sergio; Parvaz, Mojan; Tzeplaeff, Laura; Pasetto, Laura; Gebelin, Marie; Ebbing, Melanie; Holzapfel, Constantin; Columbro, Stefano Fabrizio; Scozzari, Serena; Knöferle, Johanna; Cordts, Isabell; Demleitner, Antonia F; Deschauer, Marcus; Dufke, Claudia; Sturm, Marc; Zhou, Qihui; Zelina, Pavol; Sudria-Lopez, Emma; Haack, Tobias B; Streb, Sebastian; Kuzma-Kozakiewicz, Magdalena; Edbauer, Dieter; Pasterkamp, R Jeroen; Laczko, Endre; Rehrauer, Hubert; Schlapbach, Ralph; et al (2024). Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target. Nature Communications, 15(1):4893.

مصطلحات موضوعية: Functional Genomics Center Zurich, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/265893/1/ZORA_s41467_024_49196_y.pdf; info:pmid/38849340; urn:issn:2041-1723

الاتاحة: https://www.zora.uzh.ch/id/eprint/265893/
https://www.zora.uzh.ch/id/eprint/265893/1/ZORA_s41467_024_49196_y.pdf

المؤلفون: Khan, Afrasiab, Muhammad, Anees, Ullah, Hidayat, Ambreen, Hina, Ullah, Abeed, May, Patrick, Lerche, Holger, Haack, Tobias B., Rehman, Shoaib ur, Kegele, Josua

المساهمون: Eberhard Karls Universität Tübingen

المصدر: Clinical Genetics ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14627
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14627

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Wortmann, Saskia B, Feichtinger, Rene G, Abela, Lucia, van Gemert, Loes A, Aubart, Mélodie, Dufeu-Berat, Claire-Marine, Boddaert, Nathalie, de Coo, Rene, Stühn, Lara, Hebbink, Jasmijn, Heinritz, Wolfram, Hildebrandt, Julia, Himmelreich, Nastassja, Korenke, Christoph, Lehman, Anna, Leyland, Thomas, Makowski, Christine, Martinez Marin, Rafael Jenaro, Marzin, Pauline, Mühlhausen, Chris, Rio, Marlène, Rotig, Agnes, Roux, Charles-Joris, Schiff, Manuel, Haack, Tobias B, Syrbe, Steffen, Zylicz, Stas A, Thiel, Christian, Veiga da Cunha, Maria, Van Schaftingen, Emile, Wagner, Matias, Mayr, Johannes A, Wevers, Ron A, Boltshauser, Eugen, Willemsen, Michel A

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Neurology. Genetics, Vol. 10, no.2, p. e200146 (2024)

Relation: boreal:288435; http://hdl.handle.net/2078.1/288435; info:pmid/38617198; urn:ISSN:2376-7839; urn:EISSN:2376-7839

الاتاحة: http://hdl.handle.net/2078.1/288435
https://doi.org/10.1212/NXG.0000000000200146

المؤلفون: Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan

المصدر: Albuainain , F , Shi , Y , Lor-Zade , S , Hüffmeier , U , Pauly , M , Reis , A , Faivre , L , Maraval , J , Bruel , A L , Them , F T M , Haack , T B , Grasshoff , U , Horber , V , Schot , R , van Slegtenhorst , M , Wilke , M & Barakat , T S 2024 , ' Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder ' , European Journal of Human Genetics , vol. 32 , no. ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a93a40be-d95d-4721-87f8-429b9c1a21a3
https://doi.org/10.1038/s41431-023-01530-6
https://pure.eur.nl/ws/files/125601358/Confirmation_and_expansion_of_the_phenotype_of_the_TCEAL1-related_neurodevelopmental_disorder.pdf
http://www.scopus.com/inward/record.url?scp=85181897717&partnerID=8YFLogxK

المؤلفون: Ansari, Morad, Faour, Kamli N W, Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M, Denhoff, Erica R, Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M, Firth, Helen, Breman, Amy M, Bijlsma, Emilia K, Iwata-Otsubo, Aiko, de Ravel, Thomy J L, Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G, Haack, Tobias B, Korenke, G Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M, Low, Karen J, Place, Emily, Humberson, Jennifer, Napier, Melanie P, Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A, Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald, O'Donnell-Luria, Anne, Talkowski, Michael E, FitzPatrick, David R, Boone, Philip M

المصدر: Ansari , M , Faour , K N W , Shimamura , A , Grimes , G , Kao , E M , Denhoff , E R , Blatnik , A , Ben-Isvy , D , Wang , L , Helm , B M , Firth , H , Breman , A M , Bijlsma , E K , Iwata-Otsubo , A , de Ravel , T J L , Fusaro , V , Fryer , A , Nykamp , K , Stühn , L G , Haack , T B , Korenke , G C , Constantinou , ....

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

Relation: https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42

الاتاحة: https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42
https://doi.org/10.1016/j.xhgg.2024.100273
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001190890300001&DestLinkType=FullRecord&DestApp=WOS_CPL
http://www.scopus.com/inward/record.url?scp=85185152165&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/68a5ecd4-5962-3ff0-8b39-add1a7cecc56/

المؤلفون: Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, Mariotti, Caterina

المصدر: ERN-RND Working Group for Management of Transition , Nanetti , L , Kearney , M , Boesch , S , Stovickova , L , Ortigoza-Escobar , J D , Macaya , A , Gomez-Andres , D , Roze , E , Molnar , M J , Wolf , N I , Darling , A , Vasco , G , Bertini , E , Indelicato , E , Neubauer , D , Haack , T B , Sagi , J C , Danti , F R , Sival , D , Zanni , G , Kolk , A , Boespflug-Tanguy ....

مصطلحات موضوعية: Child-to-adult transition, Clinical practice, European Reference Networks (ERNs), Rare neurological diseases, Transition care, Young healthcare management

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/b08ea651-c310-4fb6-866a-ed295dcccfeb
https://research.rug.nl/en/publications/b08ea651-c310-4fb6-866a-ed295dcccfeb
https://doi.org/10.1007/s10072-023-07101-3
https://pure.rug.nl/ws/files/1125970219/s10072-023-07101-3.pdf
http://www.scopus.com/inward/record.url?scp=85174415792&partnerID=8YFLogxK

المؤلفون: Gustavsson, Emil K, Follett, Jordan, Trinh, Joanne, Barodia, Sandeep K, Real, Raquel, Liu, Zhiyong, Grant-Peters, Melissa, Fox, Jesse D, Appel-Cresswell, Silke, Stoessl, A Jon, Rajput, Alex, Rajput, Ali H, Auer, Roland, Tilney, Russel, Sturm, Marc, Haack, Tobias B, Lesage, Suzanne, Tesson, Christelle, Brice, Alexis, Vilariño-Güell, Carles, Ryten, Mina, Goldberg, Matthew S, West, Andrew B, Hu, Michele T, Morris, Huw R, Sharma, Manu, Gan-Or, Ziv, Samanci, Bedia, Lis, Pawel, Periñan, Maria Teresa, Amouri, Rim, Ben Sassi, Samia, Hentati, Faycel, Tonelli, Francesca, Alessi, Dario R, Farrer, Matthew J

المصدر: Gustavsson , E K , Follett , J , Trinh , J , Barodia , S K , Real , R , Liu , Z , Grant-Peters , M , Fox , J D , Appel-Cresswell , S , Stoessl , A J , Rajput , A , Rajput , A H , Auer , R , Tilney , R , Sturm , M , Haack , T B , Lesage , S , Tesson , C , Brice , A , Vilariño-Güell , C , Ryten , M , Goldberg , M S , West , A B ....

مصطلحات موضوعية: Humans, Female, Male, Parkinson Disease/genetics, rab GTP-Binding Proteins/genetics, Middle Aged, Aged, Genetic Linkage/genetics, Adult, Canada/epidemiology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics, Tunisia, Genetic Predisposition to Disease/genetics, Exome Sequencing, Case-Control Studies, Genotype, /dk/atira/pure/subjectarea/asjc/2700/2728, name=Clinical Neurology

وصف الملف: application/pdf

الاتاحة: https://discovery.dundee.ac.uk/en/publications/1515fc01-e332-4a11-a70e-94fc8af368a6
https://doi.org/10.1016/S1474-4422(24)00121-2
https://discovery.dundee.ac.uk/ws/files/130552802/PIIS1474442224001212.pdf
http://www.scopus.com/inward/record.url?scp=85189968779&partnerID=8YFLogxK

المؤلفون: Laugwitz, Lucia, Cheng, Fubo, Collins, Stephan C, Hustinx, Alexander, Navarro, Nicolas, Welsch, Simon, Cox, Helen, Hsieh, Tzung-Chien, Vijayananth, Aswinkumar, Buchert, Rebecca, Bender, Benjamin, Efthymiou, Stephanie, Murphy, David, Zafar, Faisal, Rana, Nuzhat, Grasshoff, Ute, Falb, Ruth J, Grimmel, Mona, Seibt, Annette, Zheng, Wenxu, Ghaedi, Hamid, Thirion, Marie, Couette, Sébastien, Azizimalamiri, Reza, Sadeghian, Saeid, Galehdari, Hamid, Zamani, Mina, Zeighami, Jawaher, Sedaghat, Alireza, Ramshe, Samira Molaei, Zare, Ali, Alipoor, Behnam, Klee, Dirk, Sturm, Marc, Ossowski, Stephan, Houlden, Henry, Riess, Olaf, Wieczorek, Dagmar, Gavin, Ryan, Maroofian, Reza, Krawitz, Peter, Yalcin, Binnaz, Distelmaier, Felix, Haack, Tobias B

المصدر: Brain , Article awae058. (2024) (In press).

مصطلحات موضوعية: neurodevelopmental disorders, zinc finger transcription factor, oto-facial syndrome, semicircular canal dysplasia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10188108/7/Maroofian_awae058.pdf; https://discovery.ucl.ac.uk/id/eprint/10188108/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188108/7/Maroofian_awae058.pdf
https://discovery.ucl.ac.uk/id/eprint/10188108/

المؤلفون: Gustavsson, Emil K, Follett, Jordan, Trinh, Joanne, Barodia, Sandeep K, Real, Raquel, Liu, Zhiyong, Grant-Peters, Melissa, Fox, Jesse D, Appel-Cresswell, Silke, Stoessl, A Jon, Rajput, Alex, Rajput, Ali H, Auer, Roland, Tilney, Russel, Sturm, Marc, Haack, Tobias B, Lesage, Suzanne, Tesson, Christelle, Brice, Alexis, Vilariño-Güell, Carles, Ryten, Mina, Goldberg, Matthew S, West, Andrew B, Hu, Michele T, Morris, Huw R, Sharma, Manu, Gan-Or, Ziv, Samanci, Bedia, Lis, Pawel, Periñan, Maria Teresa, Amouri, Rim, Ben Sassi, Samia, Hentati, Faycel, Global Parkinson's Genetics Program (GP2), Tonelli, Francesca, Alessi, Dario R, Farrer, Matthew J

المصدر: The Lancet Neurology (2024) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10190820/1/1-s2.0-S1474442224001212-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10190820/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10190820/1/1-s2.0-S1474442224001212-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10190820/

المؤلفون: Weisschuh, Nicole, Mazzola, Pascale, Zuleger, Theresia, Schaeferhoff, Karin, Kühlewein, Laura, Kortüm, Friederike, Witt, Dennis, Liebmann, Alexandra, Falb, Ruth, Pohl, Lisa, Reith, Milda, Stühn, Lara G, Bertrand, Miriam, Müller, Amelie, Casadei, Nicolas, Kelemen, Olga, Kelbsch, Carina, Kernstock, Christoph, Richter, Paul, Sadler, Francoise, Demidov, German, Schütz, Leon, Admard, Jakob, Sturm, Marc, Grasshoff, Ute, Tonagel, Felix, Heinrich, Tilman, Nasser, Fadi, Wissinger, Bernd, Ossowski, Stephan, Kohl, Susanne, Riess, Olaf, Stingl, Katarina, Haack, Tobias B

مصطلحات موضوعية: Diagnostics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/2/186; http://dx.doi.org/10.1136/jmg-2023-109470

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/2/186
https://doi.org/10.1136/jmg-2023-109470