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Sacherschließung
article
(2)
Article
(2)
Rare Diseases/genetics [MeSH]
(1)
Rare Diseases/epidemiology [MeSH]
(1)
Rare Diseases/diagnosis [MeSH]
(1)
Phenotype [MeSH]
(1)
Humans [MeSH]
(1)
Genomics [MeSH]
(1)
Chromosome Mapping [MeSH]
(1)
/692/699/375/2014
(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
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YALDIZ, BURCU
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García-Peláez, José
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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
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Benetti, Elisa
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Bullich Vilanova, Gemma
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Sablauskas, Karolis
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Beltran, Sergi
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Gilissen, Christian
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Hoischen, Alexander
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Ossowski, Stephan
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de Voer, Richarda M
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Lohmann, Katja
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Oliveira, Carla
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Topf, Ana
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Vissers, Lisenka E. L. M.
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Solve-RD Consortium
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Riess, Olaf
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Haack, Tobias B.
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Graessner, Holm
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Zurek, Birte
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Ellwanger, Kornelia
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Sturm, Marc
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Park, Joohyun
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Schütz, Leon
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Schulze-Hentrich, Julia M.
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Schüle, Rebecca
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Xu, Jishu
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Kellner, Melanie
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Resch, Baptist
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Kolen, Ingrid
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Synofzik, Matthis
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Wilke, Carlo
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Traschütz, Andreas
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Beijer, Danique
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Heutink, Peter
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Schöls, Ludger
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Hengel, Holger
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Lerche, Holger
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Boßelmann, Christian
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Kegele, Josua
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Lauerer-Braun, Robert
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Lauxmann, Stephan
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Brunner, Han
|
Scheffer, Hans
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Hoogerbrugge, Nicoline
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’t Hoen, Peter A. C.
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Steyaert, Wouter
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de Voer, Richarda
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Kamsteeg, Erik-Jan
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van de Warrenburg, Bart
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van Os, Nienke
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Paske, Iris te
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Janssen, Erik
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de Boer, Elke
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Steehouwer, Marloes
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Neveling, Kornelia
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van der Sanden, Bart
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Sagath, Lydia
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Kleefstra, Tjitske
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Brookes, Anthony J.
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Gibson, Spencer
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Riaz, Umar
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Warren, Greg
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Nalagandla, Sai Anuhya
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Wang, Yunze Patrick
|
Sukumaran, Deepthi
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Abadijou, Sadegh
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Straub, Volker
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Bettolo, Chiara Marini
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Manera, Jordi Diaz
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Hambleton, Sophie
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Engelhardt, Karin
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Clayton-Smith, Jill
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Banka, Siddharth
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Alexander, Elizabeth
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Jackson, Adam
|
Faivre, Laurence
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Thauvin, Christel
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Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Bruel, Ange-Line
|
Couturier, Victor
|
Gut, Ivo Glynne
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Piscia, Davide
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Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Corvo, Alberto
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
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Codina, Anna Esteve
|
Dabad, Marc
|
Gut, Marta
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Raineri, Emanuele
|
Gumus, Gulcin
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Bros-Facer, Virginie
|
Rath, Ana
|
Hanauer, Marc
|
Lagorce, David
|
Hongnat, Oscar
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Chahdil, Maroua
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Lucano, Caterina
|
Lebreton, Emeline
|
Stevanin, Giovanni
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Bonne, Gisèle
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Evangelista, Teresinha
|
Allamand, Valérie
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Nelson, Isabelle
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Ben Yaou, Rabah
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Metay, Corinne
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Eymard, Bruno
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Cohen, Enzo
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Atalaia, Antonio
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Stojkovic, Tanya
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Macek, Milan
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Turnovec, Marek
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Thomasová, Dana
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Kremliková, Radka Pourová
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Franková, Vera
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Havlovicová, Markéta
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Ryba, Lukáš
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Lišková, Petra
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Doležalová, Pavla
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Krebsová, Alice
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Parkinson, Helen
|
Keane, Thomas
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Freeberg, Mallory
|
Thomas, Coline
|
Spalding, Dylan
|
Robinson, Peter
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Danis, Daniel
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Robert, Glenn
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Costa, Alessia
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Hanna, Mike
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Houlden, Henry
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Reilly, Mary
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Vandrovcova, Jana
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Efthymiou, Stephanie
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Morsy, Heba
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Cali, Elisa
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Magrinelli, Francesca
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Sisodiya, Sanjay M.
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Bellampalli, Ravishankara
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Moloney, Patrick
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Rohrer, Jonathan
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Muntoni, Francesco
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Zaharieva, Irina
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Sarkozy, Anna
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Perry, Luke
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Pini, Veronica
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Müller, Juliane
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Timmerman, Vincent
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Baets, Jonathan
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de Vries, Geert
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De Winter, Jonathan
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de Jonghe, Peter
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Van de Vondel, Liedewei
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De Ridder, Willem
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Weckhuysen, Sarah
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Stamberger, Hannah
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Millevert, Charissa
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Smal, Noor
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Nigro, Vincenzo
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Morleo, Manuela
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Pinelli, Michele
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Banfi, Sandro
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Torella, Annalaura
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Zeuli, Roberta
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Zanobio, Mariateresa
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Piluso, Giulio
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Ferlini, Alessandra
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Selvatici, Rita
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Gualandi, Francesca
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Bigoni, Stefania
|
Neri, Marcella
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Aretz, Stefan
|
Spier, Isabel
|
Sommer, Anna Katharina
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Peters, Sophia
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Barbosa-Matos, Rita
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José, Celina São
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Ferreira, Marta
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Gullo, Irene
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Fernandes, Susana
|
Garrido, Luzia
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Ferreira, Pedro
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Carneiro, Fátima
|
Swertz, Morris A.
|
van der Velde, Joeri K.
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van der Vries, Gerben
|
Neerincx, Pieter B.
|
Roelofs-Prins, Dieuwke
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Ruvolo, David
|
van Gijn, Marielle
|
Abbott, Kristin M.
|
Kerstjens Frederikse, Wilhemina S.
|
Zonneveld-Huijssoon, Eveline
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Köhler, Sebastian
|
Metcalfe, Alison
|
Moore, Richard
|
Verloes, Alain
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Drunat, Séverine
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Heron, Delphine
|
Mignot, Cyril
|
Keren, Boris
|
de Sainte Agathe, Jean-Madeleine
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Jamra, Rami Abou
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Abramowicz, Marc
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Kiliçarslan, Özge Aksel
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Allen, Nicholas
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Javier Alonso García de la Rosa, Francisco
|
Balestrini, Simona
|
Balicza, Peter
|
Bartolomaeus, Tobias
|
Başak, Ayşe Nazl
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Masó, Laura Batlle
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Beeson, David
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Benoit, Valerie
|
Benson, Katherine
|
Sánchez, Eva Bermejo
|
Bijlsma, Emilia K.
|
Bogaert, Elke
|
Bourbouli, Mara
|
Boztug, Kaan
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Brohée, Sylvain
|
Byrne, Susan
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Garcia de Oteyza, Andrés Caballero
|
Capella, Gabriel
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Carpancea, Evelina
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Cavalleri, Gianpiero
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Cazurro-Gutiérrez, Ana
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Chinnery, Patrick F.
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Cilio, Maria-Roberta
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Ciolfi, Andrea
|
Claeys, Kristl
|
Colobran, Roger
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Cordts, Isabell
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Cossins, Judith
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Dahan, Karin
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Dallapiccola, Bruno
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Delanty, Norman
|
Depienne, Christel
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Depondt, Chantal
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Dermaut, Bart
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Deschauer, Marcus
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Desir, Julie
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Destrée, Anne
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Drakos, Minas
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Duerinckx, Sarah
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Estevez, Berta
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Evangeliou, Athanasios
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Fallerini, Chiara
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Ferilli, Marco
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Furini, Simone
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Gagneur, Julien
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Ghani, Hamidah
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Greally, Marie
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Grimbacher, Bodo
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Guerrini, Renzo
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Hackman, Peter
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Haimel, Matthias
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Bouveret, Eva Hammar
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Hemelsoet, Dimitri
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Herzog, Rebecca
|
Hoffer, Mariette J. V.
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Holinski-Feder, Elke
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Horvath, Rita
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Huibers, Manon
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Iacomino, Michele
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Johari, Mridul
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Kapaki, Elisabeth
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Karadurmus, Deniz
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Karakaya, Mert
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Kokosali, Evgenia
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Korff, Christian
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Krass, Leon
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Lacombe, Didier
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Laner, Andreas
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Leavis, Helen
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Lederer, Damien
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Leitão, Elsa
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Lochmüller, Hanns
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Martín, Estrella López
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Luknárová, Rebeka
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Macaya, Alfons
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Malaichamy, Sivasankar
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Marcé-Grau, Anna
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Delgado, Beatriz Martínez
|
Mary, Sandrine
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Masclaux, Frédéric
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Mathioudakis, Lambros
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Maver, Ales
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May, Patrick
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Maystadt, Isabelle
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Mei, Davide
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Mertes, Christian
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Meunier, Colombine
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Molnar, Maria Judit
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Monestier, Olivier
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Moortgat, Stéphanie
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Münchau, Alexander
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Munell, Francina
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Osorio, Andrés Nascimento
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de Benito, Daniel Natera
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Reghan, Mary O.
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Olimpio, Catarina
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Parrini, Elena
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Pauly, Martje
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Pérez-Dueñas, Belén
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Peterlin, Borut
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Platzer, Konrad
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Polavarapu, Kiran
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Poppe, Bruce
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De la Paz, Manuel Posada
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Privitera, Flavia
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Radio, Francesca Clementina
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Ratnaike, Thiloka
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Renieri, Alessandra
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Riva, Antonella
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Rooryck, Caroline
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Roos, Andreas
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Ruivenkamp, Claudia A. L.
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Rump, Andreas
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Santen, Gijs W. E.
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Savarese, Marco
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Scala, Marcello
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Schon, Katherine
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Schröck, Evelin
|
Scudieri, Paolo
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Spilioti, Martha
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Steinke-Lange, Verena
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Striano, Pasquale
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Sznajer, Yves
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Tartaglia, Marco
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Thompson, Rachel
|
Trimouille, Aurelien
|
Udd, Bjarne
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Uva, Paolo
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Valle, Laura
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van der Veken, Lars
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van Heurck, Roxane
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van Montfrans, Joris
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Van Nieuwenhove, Erika
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Verdin, Hannah
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Webb, David
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Wirth, Brunhilde
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Yépez, Vicente A.
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Zaganas, Ioannis
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Zara, Federico
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Zguro, Kristina
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Laurie, Steven
2024
http://purl.org/ontology/bibo/Article
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
2023 .
LAGORCE, David
|
Lebreton, Emeline
|
Matalonga, Leslie
|
Hongnat, Oscar
|
Chahdil, Maroua
|
Piscia, Davide
|
Paramonov, Ida
|
Ellwanger, Kornelia
|
Köhler, Sebastian
|
Robinson, Peter
|
Graessner, Holm
|
Beltran, Sergi
|
Lucano, Caterina
|
Hanauer, Marc
|
Rath, Ana
2023
http://purl.org/ontology/bibo/Article