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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders 2021 . Klau, Julia \| Abou Jamra, Rami \| Radtke, Maximilian \| Oppermann, Henry \| Lemke, Johannes \| Beblo, Skadi \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article
Familial cleft tongue caused by a unique translation initiation codon variant in TP63 2021 . Schmidt, Julia \| Schreiber, Gudrun \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Li, Yun \| Kaulfuß, Silke \| Funke, Rudolf \| Wilken, Bernd \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability 2021 . Haag, Natja \| Tan, Ene-Choo \| Begemann, Matthias \| Buschmann, Lars \| Kraft, Florian \| Holschbach, Petra \| Lai, Angeline H. M. \| Brett, Maggie \| Mochida, Ganeshwaran H. \| DiTroia, Stephanie \| Pais, Lynn \| Neil, Jennifer E. \| Al-Saffar, Muna \| Bastaki, Laila \| Walsh, Christopher \| Kurth, Ingo \| Knopp, Cordula	2021		http://purl.org/ontology/bibo/Article
Origins of human genetics. A personal perspective 2021 . Passarge, Eberhard	2021		http://purl.org/ontology/bibo/Article
A polygenic risk score for multiple myeloma risk prediction 2021 . Canzian, Federico \| Piredda, Chiara \| Macauda, Angelica \| Zawirska, Daria \| Andersen, Niels Frost \| Nagler, Arnon \| Zaucha, Jan Maciej \| Mazur, Grzegorz \| Dumontet, Charles \| Wątek, Marzena \| Jamroziak, Krzysztof \| SAINZ, JUAN \| Várkonyi, Judit \| Butrym, Aleksandra \| Beider, Katia \| Abildgaard, Niels \| Lesueur, Fabienne \| Dudziński, Marek \| Vangsted, Annette Juul \| Pelosini, Matteo \| Subocz, Edyta \| Petrini, Mario \| Buda, Gabriele \| Raźny, Małgorzata \| Gemignani, Federica \| Marques, Herlander \| Orciuolo, Enrico \| Kadar, Katalin \| Jurczyszyn, Artur \| Druzd-Sitek, Agnieszka \| Vogel, Ulla \| Andersen, Vibeke \| Reis, Rui Manuel \| Suska, Anna \| Avet-Loiseau, Hervé \| Kruszewski, Marcin \| Tomczak, Waldemar \| Rymko, Marcin \| Minvielle, Stéphane \| Campa, Daniele	2021		http://purl.org/ontology/bibo/Article
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 2021 . Timmann, Dagmar \| Erasmus, Corrie E. \| Reichbauer, Jennifer \| Baets, Jonathan \| Chinnery, Patrick \| Dürr, Alexandra \| Haack, Tobias \| Hengel, Holger \| Kamsteeg, Erik-Jan \| Kamsteeg, Christoph \| Molnar, Judit \| Riess, Olaf \| Schüle, Rebecca \| Stevanin, Giovanni \| Synofzik, Matthis \| Timmerman, Vincent \| van Os, Nienke \| Wayand, Melanie \| Wilke, Carlo \| van de Warrenburg, Bart \| Schöls, Ludger \| Wilke, Carlo \| Bevot, Andrea \| Zuchner, Stephan \| Synofzik, Matthis \| Graessner, Holm \| Zurek, Birte \| Ellwanger, Kornelia \| Ossowski, Stephan \| Demidov, German \| Sturm, Marc \| Schulze-Hentrich, Julia M. \| Heutink, Peter \| Brunner, Han \| Scheffer, Hans \| Hoogerbrugge, Nicoline \| Hoischen, Alexander \| ’t Hoen, Peter A. C. \| Vissers, Lisenka E. L. M. \| Gilissen, Christian \| Steyaert, Wouter \| Sablauskas, Karolis \| de Voer, Richarda M. \| Janssen, Erik \| de Boer, Elke \| Steehouwer, Marloes \| Yaldiz, Burcu \| Kleefstra, Tjitske \| Brookes, Anthony J. \| Veal, Colin \| Gibson, Spencer \| Wadsley, Marc \| Mehtarizadeh, Mehdi \| Riaz, Umar \| Warren, Greg \| Dizjikan, Farid Yavari \| Shorter, Thomas \| Töpf, Ana \| 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 \| Rath, Ana \| Hanauer, Marc \| Olry, Annie \| Lagorce, David \| Havrylenko, Svitlana \| Izem, Katia \| Rigour, Fanny \| 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 \| Kremlik, Vlastimil \| Parkinson, Helen \| Keane, Thomas \| Spalding, Dylan \| 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 \| 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
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant 2021 . Hanker, Britta \| Gillessen-Kaesbach, Gabriele \| Hüning, Irina \| Lüdecke, Hermann-Josef \| Wieczorek, Dagmar	2021		http://purl.org/ontology/bibo/Article
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy 2021 . Lieberwirth, Johann Kaspar \| Joset, Pascal \| Heinze, Anja \| Hentschel, Julia \| Stein, Anja \| Iannaccone, Antonella \| Steindl, Katharina \| Kuechler, Alma \| Abou Jamra, Rami	2021		http://purl.org/ontology/bibo/Article
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain 2021 . Neuser, Sonja \| krey, ilona \| Schwan, Annemarie \| Abou Jamra, Rami \| Bartolomaeus, Tobias \| Döring, Jan \| Syrbe, Steffen \| Plassmann, Margit \| Rohde, Stefan \| Roth, Christian \| Rehder, Helga \| Radtke, Maximilian \| Le Duc, Diana \| Schubert, Susanna \| Bermudez-Guzman, Luis \| Leal, Alejandro \| Schoner, Katharina \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article
Genetics of diaphragmatic hernia 2021 . Schreiner, Yannick \| Schaible, Thomas \| Rafat, Neysan	2021		http://purl.org/ontology/bibo/Article

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