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8 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 2024 . Demidov, German \| Laurie, Steven \| Torella, Annalaura \| PILUSO, Giulio \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Graessner, Holm \| Banka, Siddharth \| Solve-RD consortium \| Macaya, Alfons \| Pérez-Dueñas, Belén \| Jackson, Adam \| Stevanin, Giovanni \| de Sainte Agathe, Jean-Madeleine \| Havlovicová, Markéta \| Horvath, Rita \| Pinelli, Michele \| van Os, Nienke J. H. \| van de Warrenburg, Bart P. C. \| Denommé-Pichon, Anne-Sophie \| Savarese, Marco \| Johari, Mridul \| Dallapiccola, Bruno \| Tartaglia, Marco \| Pauly, Martje G. \| Sommer, Anna Katharina \| Haack, Tobias B. \| Töpf, Ana \| Didier, Lacombe \| Fallerini, Chiara \| Renieri, Alessandra \| Chinnery, Patrick F. \| Natera-de Benito, Daniel \| Nascimento, Andres \| Trimouille, Aurélien \| Munell, Francina \| Marcé-Grau, Anna \| Rabah, Ben Yaou \| Bonne, Gisèle \| Van de Vondel, Liedewei \| Lohmann, Katja \| Ossowski, Stephan	2024		http://purl.org/ontology/bibo/Article
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) 2024 . Schmitz, Anne S. \| Raju, Janani \| Köhler, Wolfgang \| Klebe, Stephan \| Cheheb, Khaled \| Reschke, Franziska \| Biskup, Saskia \| Haack, Tobias B. \| Roeben, Benjamin \| Kellner, Melanie \| Rahner, Nils \| Bloch, Thomas \| Lemke, Johannes \| Bender, Benjamin \| Schöls, Ludger \| Hengel, Holger \| Hayer, Stefanie Nicole	2024		http://purl.org/ontology/bibo/Article
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 2024 . Demidov, German \| YALDIZ, BURCU \| García-Peláez, José \| de Boer, Elke \| Schuermans, Nika \| Van de Vondel, Liedewei \| Paramonov, Ida \| Johansson, Lennart \| Musacchia, Francesco \| Benetti, Elisa \| Bullich Vilanova, Gemma \| Sablauskas, Karolis \| Beltran, Sergi \| Gilissen, Christian \| Hoischen, Alexander \| Ossowski, Stephan \| de Voer, Richarda M \| 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 \| de Voer, Richarda \| Kamsteeg, Erik-Jan \| van de Warrenburg, Bart \| van Os, Nienke \| Paske, Iris te \| Janssen, Erik \| de Boer, Elke \| 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 \| Van de Vondel, Liedewei \| 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	2024		http://purl.org/ontology/bibo/Article
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder 2024 . Albuainain, Fatimah \| Shi, Yuwei \| Lor-Zade, Sarah \| Hüffmeier, Ulrike \| Pauly, Melissa \| Reis, André \| Faivre, Laurence \| Maraval, Julien \| Bruel, Ange-Line \| Tran Mau Them, Frederic \| Haack, Tobias B. \| Grasshoff, Ute \| Horber, Veronka \| Schot, Rachel \| van Slegtenhorst, Marjon \| Wilke, Martina \| Barakat, Stefan	2024		http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 2021 . Vissers, Lisenka \| Schüle, Rebecca \| Synofzik, Matthis \| Töpf, Ana \| Gilissen, Christian \| Ossowski, Stephan \| 't Hoen, Peter \| Schulze-Hentrich, Julia M. \| Riess, Olaf \| Brunner, Han G. \| Brookes, Anthony \| Rath, Ana \| Bonne, Gisèle \| hoogerbrugge, nicoline \| Evangelista, Teresinha \| Harmuth, Tina \| Swertz, Morris \| Spalding, John Dylan \| Hoischen, Alexander \| Graessner, Holm \| Haack, Tobias B. \| Zurek, Birte \| Ellwanger, Kornelia \| Demidov, German \| Sturm, Marc \| Kessler, Christoph \| Wayand, Melanie \| Wilke, Carlo \| Traschütz, Andreas \| Schöls, Ludger \| Hengel, Holger \| Heutink, Peter \| Brunner, Han \| Scheffer, Hans \| 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 \| Veal, Colin \| Gibson, Spencer \| Wadsley, Marc \| Mehtarizadeh, Mehdi \| Riaz, Umar \| Warren, Greg \| Dizjikan, Farid Yavari \| Shorter, Thomas \| Straub, Volker \| Bettolo, Chiara Marini \| Specht, Sabine \| Clayton-Smith, Jill \| Banka, Siddharth \| Alexander, Elizabeth \| Jackson, Adam \| Faivre, Laurence \| Thauvin, Christel \| Vitobello, Antonio \| Denommé-Pichon, Anne-Sophie \| Duffourd, Yannis \| Tisserant, Emilie \| Bruel, Ange-Line \| Peyron, Christine \| Pélissier, Aurore \| Beltran, Sergi \| Gut, Ivo Glynne \| Laurie, Steven \| Piscia, Davide \| Matalonga, Leslie \| Papakonstantinou, Anastasios \| Bullich, Gemma \| Corvo, Alberto \| Garcia, Carles \| Fernandez-Callejo, Marcos \| Hernández, Carles \| Picó, Daniel \| Paramonov, Ida \| Gumus, Gulcin \| Bros-Facer, Virginie \| Hanauer, Marc \| Olry, Annie \| Lagorce, David \| Havrylenko, Svitlana \| Izem, Katia \| Rigour, Fanny \| Stevanin, Giovanni \| Durr, Alexandra \| Davoine, Claire-Sophie \| Guillot-Noel, Léna \| Heinzmann, Anna \| Coarelli, Giulia \| 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 \| Kremlik, Vlastimil \| Parkinson, Helen \| Keane, Thomas \| Senf, Alexander \| Robinson, Peter \| Danis, Daniel \| Robert, Glenn \| Costa, Alessia \| Patch, Christine \| Hanna, Mike \| Houlden, Henry \| Reilly, Mary \| Vandrovcova, Jana \| Muntoni, Francesco \| Zaharieva, Irina \| Sarkozy, Anna \| Timmerman, Vincent \| Baets, Jonathan \| Van de Vondel, Liedewei \| Beijer, Danique \| de Jonghe, Peter \| Nigro, Vincenzo \| Banfi, Sandro \| Torella, Annalaura \| Musacchia, Francesco \| Piluso, Giulio \| Ferlini, Alessandra \| Selvatici, Rita \| Rossi, Rachele \| Neri, Marcella \| Aretz, Stefan \| Spier, Isabel \| Sommer, Anna Katharina \| Peters, Sophia \| Oliveira, Carla \| Pelaez, Jose Garcia \| Matos, Ana Rita \| José, Celina São \| Ferreira, Marta \| Gullo, Irene \| Fernandes, Susana \| Garrido, Luzia \| Ferreira, Pedro \| Carneiro, Fátima \| Swertz, Morris A. \| Johansson, Lennart \| van der Velde, Joeri K. \| van der Vries, Gerben \| Neerincx, Pieter B. \| Roelofs-Prins, Dieuwke \| Köhler, Sebastian \| Metcalfe, Alison \| Verloes, Alain \| Drunat, Séverine \| Rooryck, Caroline \| Trimouille, Aurelien \| Castello, Raffaele \| Morleo, Manuela \| Pinelli, Michele \| Varavallo, Alessandra \| De la Paz, Manuel Posada \| Sánchez, Eva Bermejo \| Martín, Estrella López \| Delgado, Beatriz Martínez \| de la Rosa, F. Javier Alonso García \| Ciolfi, Andrea \| Dallapiccola, Bruno \| Pizzi, Simone \| Radio, Francesca Clementina \| Tartaglia, Marco \| Renieri, Alessandra \| Benetti, Elisa \| Balicza, Peter \| Molnar, Maria Judit \| Maver, Ales \| Peterlin, Borut \| Münchau, Alexander \| Lohmann, Katja \| Herzog, Rebecca \| Pauly, Martje \| Macaya, Alfons \| Marcé-Grau, Anna \| Osorio, Andres Nascimiento \| de Benito, Daniel Natera \| Lochmüller, Hanns \| Thompson, Rachel \| Polavarapu, Kiran \| Beeson, David \| Cossins, Judith \| Cruz, Pedro M. Rodriguez \| Hackman, Peter \| Johari, Mridul \| Savarese, Marco \| Udd, Bjarne \| Horvath, Rita \| Capella, Gabriel \| Valle, Laura \| Holinski-Feder, Elke \| Laner, Andreas \| Steinke-Lange, Verena \| Schröck, Evelin \| Rump, Andreas	2021		http://purl.org/ontology/bibo/Article
A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype 2021 . Mengel, David \| Traschütz, Andreas \| Reich, Selina \| Leyva-Gutiérrez, Alejandra \| Bender, Friedemann \| Hauser, Stefan \| Haack, Tobias B. \| Synofzik, Matthis	2021		http://purl.org/ontology/bibo/Article
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis 2020 . Zimmermann, Milan \| Deininger, Natalie \| Willikens, Sophia \| Haack, Tobias B. \| Grundmann-Hauser, Kathrin \| Streubel, Berthold \| Schreiber, Melanie \| Lerche, Holger \| Grimm, Alexander	2020		http://purl.org/ontology/bibo/Article
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery 2020 . Hengel, Holger \| Buchert, Rebecca \| Sturm, Marc \| Haack, Tobias B. \| Schelling, Yvonne \| Mahajnah, Muhammad \| Sharkia, Rajech \| Azem, Abdussalam \| Balousha, Ghassan \| Ghanem, Zaid \| falana, mohammed \| Balousha, Osama \| Ayesh, Suhail \| Keimer, Reinhard \| Deigendesch, Werner \| Zaidan, Jimmy \| Marzouqa, Hiyam \| Bauer, Peter \| Schöls, Ludger	2020		http://purl.org/ontology/bibo/Article