Holm Graessner


AuthID: R-00G-VV3

Publicações a aguardarem confirmação

1
TITLE: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
AUTHORS: Adam Jackson; Sheng Jia Lin; Elizabeth A Jones; Kate E Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Ambrose J.C.; Arumugam P.; Bevers R.; Bleda M.; Boardman-Pretty F.; Boustred C.R.; Brittain H.; Brown M.A.; Caulfield M.J.; Chan G.C.; Giess A.; Griffin J.N.; Hamblin A.; Henderson S.; Hubbard T.J.P.; Jackson R.; Jones L.J.; Kasperaviciute D.; Kayikci M.; Kousathanas A.; Lahnstein L.; Lakey A.; Leigh S.E.A.; Leong I.U.S.; Lopez F.J.; Maleady-Crowe F.; McEntagart M.; Minneci F.; Mitchell J.; Moutsianas L.; Mueller M.; Murugaesu N.; Need A.C.; O‘Donovan P.; Odhams C.A.; Patch C.; Perez-Gil D.; Pereira M.B.; Pullinger J.; Rahim T.; Rendon A.; Rogers T.; Savage K.; Sawant K.; Scott R.H.; Siddiq A.; Sieghart A.; Smith S.C.; Sosinsky A.; Stuckey A.; Tanguy M.; Taylor Tavares A.L.; Thomas E.R.A.; Thompson S.R.; Tucci A.; Welland M.J.; Williams E.; Witkowska K.; Wood S.M.; Zarowiecki M.; Olaf Riess; Tobias B Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M Schulze Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; ...More
PUBLISHED: 2023, SOURCE: Human Genetics and Genomics Advances, VOLUME: 4, ISSUE: 2
INDEXED IN: Scopus CrossRef: 1
2
TITLE: European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases  Full Text
AUTHORS: Aleksovska, Katina; Kobulashvili, Teia; Costa, Joao; Zimmermann, Georg; Ritchie, Karen; Reinhard, Carola; Vignatelli, Luca; Fanciulli, Alessandra; Damian, Maxwel; Pavlakova, Lucia; Burgunder, Jean Marc; Kopishinskaya, Svetlana; Rakusa, Martin; Kovacs, Norbert; Erdogan, Fusun Ferda; Linton, Lori Renna; Copetti, Massimiliano; Lamperti, Costanza; Servidei, Serenella; Evangelista, Theresina; Ayme, Segolene; Pareyson, Davide; Sellner, Johann; Krarup, Christian; de Visser, Marianne; van den Bergh, Peter; Toscano, Antonio; Graessner, Holm; Berger, Thomas; Bassetti, Claudio; Vidailhet, Marie; Trinka, Eugene; Deuschl, Guenther; Federico, Antonio; Leone, Maurizio A.; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF NEUROLOGY
INDEXED IN: Scopus WOS
3
TITLE: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data  Full Text
AUTHORS: Leslie Matalonga; Carles Hernández Ferrer; Davide Piscia; Enzo Cohen; Enzo Cohen; Isabel Cuesta; Daniel Danis; Anne Sophie Denommé Pichon; Anne Sophie Denommé Pichon; Yannis Duffourd; Christian Gilissen; Mridul Johari; Steven Laurie; Shuang Li; Leslie Matalonga; Isabelle Nelson; Sophia Peters; Ida Paramonov; Sivakumar Prasanth; Peter Robinson; Karolis Sablauskas; Marco Savarese; Wouter Steyaert; Joeri K van der Velde; Antonio Vitobello; Antonio Vitobello; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Lisenka E L M Vissers; Lisenka E L M Vissers; Richarda de Voer; Richarda de Voer; Stefan Aretz; Gabriel Capella; Gareth Evans; Jose Garcia Pelaez; Elke Holinski Feder; Nicoline Hoogerbrugge; Andreas Laner; Carla Oliveira; Andreas Rump; Evelin Schröck; Anna Katharina Sommer; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Siddharth Banka; Elisa Benetti; Giorgio Casari; Andrea Ciolfi; Jill Clayton Smith; Bruno Dallapiccola; Elke de Boer; Kornelia Ellwanger; Laurence Faivre; Holm Graessner; Tobias B Haack; Anna Hammarsjö; Marketa Havlovicova; Alexander Hoischen; Anne Hugon; Adam Jackson; Tjitske Kleefstra; Anna Lindstrand; Estrella López Martín; Milan Macek; Manuela Morleo; Vicenzo Nigro; Ann Nordgren; Maria Pettersson; Michele Pinelli; Simone Pizzi; Manuel Posada; Francesca Clementina Radio; Alessandra Renieri; Caroline Rooryck; Lukas Ryba; Martin Schwarz; Marco Tartaglia; Christel Thauvin; Annalaura Torella; Aurélien Trimouille; Alain Verloes; Pavel Votypka; Klea Vyshka; Birte Zurek; Jonathan Baets; Danique Beijer; Gisèle Bonne; Judith Cossins; Teresinha Evangelista; Alessandra Ferlini; Peter Hackman; Michael G Hanna; Rita Horvath; Henry Houlden; Jarred Lau; Hanns Lochmüller; ...More
PUBLISHED: 2021, SOURCE: European Journal of Human Genetics, VOLUME: 29, ISSUE: 9
INDEXED IN: Scopus CrossRef: 17

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