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article
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Sacherschließung
Article
(2)
Pathology, Molecular [MeSH]
(1)
Neurodevelopmental Disorders/genetics [MeSH]
(1)
Neurodevelopmental Disorders/diagnosis [MeSH]
(1)
Humans [MeSH]
(1)
DNA Methylation [MeSH]
(1)
Biomarkers [MeSH]
(1)
/692/699/375/366
(1)
/692/53/2421
(1)
Publikationstyp
Artikel
(2)
Medium
Erscheinungsjahr
2024
(1)
2023
(1)
Institution
2 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024 .
Demidov, German
|
YALDIZ, BURCU
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García-Peláez, José
|
de Boer, Elke
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Schuermans, Nika
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Van de Vondel, Liedewei
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Paramonov, Ida
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Johansson, Lennart
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Musacchia, Francesco
|
Benetti, Elisa
|
Bullich Vilanova, Gemma
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Sablauskas, Karolis
|
Beltran, Sergi
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Gilissen, Christian
|
Hoischen, Alexander
|
Ossowski, Stephan
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de Voer, Richarda M
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Lohmann, Katja
|
Oliveira, Carla
|
Topf, Ana
|
Vissers, Lisenka E. L. M.
|
Solve-RD Consortium
|
Riess, Olaf
|
Haack, Tobias B.
|
Graessner, Holm
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Zurek, Birte
|
Ellwanger, Kornelia
|
Sturm, Marc
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Park, Joohyun
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Schütz, Leon
|
Schulze-Hentrich, Julia M.
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Schüle, Rebecca
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Xu, Jishu
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Kellner, Melanie
|
Resch, Baptist
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Kolen, Ingrid
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Synofzik, Matthis
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Wilke, Carlo
|
Traschütz, Andreas
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Beijer, Danique
|
Heutink, Peter
|
Schöls, Ludger
|
Hengel, Holger
|
Lerche, Holger
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Boßelmann, Christian
|
Kegele, Josua
|
Lauerer-Braun, Robert
|
Lauxmann, Stephan
|
Brunner, Han
|
Scheffer, Hans
|
Hoogerbrugge, Nicoline
|
’t Hoen, Peter A. C.
|
Steyaert, Wouter
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de Voer, Richarda
|
Kamsteeg, Erik-Jan
|
van de Warrenburg, Bart
|
van Os, Nienke
|
Paske, Iris te
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
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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
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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
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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
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Ben Yaou, Rabah
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Metay, Corinne
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Eymard, Bruno
|
Cohen, Enzo
|
Atalaia, Antonio
|
Stojkovic, Tanya
|
Macek, Milan
|
Turnovec, Marek
|
Thomasová, Dana
|
Kremliková, Radka Pourová
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Franková, Vera
|
Havlovicová, Markéta
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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
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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
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
2023 .
HUSSON, Thomas
|
Lecoquierre, François
|
Nicolas, Gael
|
Richard, Anne-Claire
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Afenjar, Alexandra
|
Audebert-Bellanger, Séverine
|
Badens, Catherine
|
Bilan, Frédéric
|
Bizaoui, Varoona
|
Boland, Anne
|
Bonnet-Dupeyron, Marie-Noëlle
|
Brischoux-Boucher, Elise
|
BONNET, Céline
|
Bournez, Marie
|
Boute, Odile
|
Brunelle, Perrine
|
Caumes, Roseline
|
Charles, Perrine
|
CHATRON, Nicolas
|
Chatron, Nicolas
|
Cogné, Benjamin
|
Colin, Estelle
|
Cormier-Daire, Valérie
|
Dard, Rodolphe
|
Dauriat, Benjamin
|
Delanne, Julian
|
Deleuze, Jean-François
|
Demurger, Florence
|
Denommé-Pichon, Anne-Sophie
|
Depienne, Christel
|
Dieux, Anne
|
Dubourg, Christele
|
Edery, Patrick
|
EL CHEHADEH, Salima
|
Faivre, Laurence
|
Fergelot, Patricia
|
Fradin, Mélanie
|
Garde, Aurore
|
Genevieve, david
|
GILBERT-DUSSARDIER, Brigitte
|
Goizet, Cyril
|
Goldenberg, Alice
|
Gouy, Evan
|
Guerrot, Anne-Marie
|
Guimier, Anne
|
Harzalla, Inès
|
Héron, Delphine
|
Isidor, Bertrand
|
Lacombe, Didier
|
LE GUILLOU, Xavier
|
Keren, Boris
|
Kuechler, Alma
|
Lacaze, Elodie
|
lavillaureix, alinoe
|
Lehalle, Daphné
|
Lesca, Gaetan
|
Lespinasse, James
|
Levy, Jonathan
|
Lyonnet, Stanislas
|
MOREL, Godelieve
|
Jean-Marçais, Nolwenn
|
Marlin, Sandrine
|
Marsili, Luisa
|
Mignot, Cyril
|
NAMBOT, Sophie
|
Nizon, Mathilde
|
Olaso, Robert
|
Pasquier, Laurent
|
Laurine, PERRIN
|
Petit, Florence
|
Pingault, Veronique
|
Piton, Amélie
|
Prieur, Fabienne
|
Putoux, Audrey
|
Planes, Marc
|
Odent, Sylvie
|
Quélin, Chloé
|
Quemener-Redon, Sylvia
|
Rama, Mélanie
|
Rio, Marlene
|
Rossi, Massimiliano
|
Schaefer, Elise
|
Rondeau, Sophie
|
Saugier-Veber, Pascale
|
Smol, Thomas
|
Sigaudy, Sabine
|
Touraine, Renaud
|
Tran Mau Them, Frederic
|
Trimouille, Aurélien
|
Van-Gils, Julien
|
Vanlerberghe, Clémence
|
Vantalon, Valérie
|
VERA, Gabriella
|
Vincent, Marie
|
Ziegler, Alban
|
Guillin, Olivier
|
Campion, Dominique
|
Charbonnier, Camille
2023
http://purl.org/ontology/bibo/Article