Direkt zum Inhalt
Fachrepositorium Lebenswissenschaften
Freier Zugang zu Wissensressourcen aus den Lebenswissenschaften
Suche
Publisso-Menue
Publizieren
PUBLISSO-System
Bücher
Policy Bücher
Bücher Übersicht
Zeitschriften / Artikel
Journals Übersicht
Serien
Policy Serien
MAK Collection
Kongresse
Forschungsdaten
Repositorien
Fachrepositorium Lebenswissenschaften
Publizieren im Fachrepositorium
LeibnizOpen
Beraten
Forschungsdatenmanagement
Digitale Langzeitarchivierung
Wir für Sie
Volltexte
Filter (Auswahl)
Sacherschließung
Neurodevelopmental disorders
(9)
Humans [MeSH]
(6)
Whole Exome Sequencing/methods [MeSH]
(2)
Review
(2)
Child, Preschool [MeSH]
(2)
Child [MeSH]
(2)
Adolescent [MeSH]
(2)
Young Adult [MeSH]
(1)
Whole Exome Sequencing/standards [MeSH]
(1)
Whole Exome Sequencing/economics [MeSH]
(1)
Publikationstyp
Artikel
(9)
Erscheinungsjahr
2021
(6)
2020
(2)
2017
(1)
Institution
Senckenberg Gesellschaft für Naturforschung
(1)
Leibniz-Institut für Resilienzforschung
(1)
Leibniz-Institut für Alternsforschung
(1)
9 Treffer
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
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
2021 .
Averdunk, Luisa
|
Sticht, Heinrich
|
Surowy, Harald
|
Lüdecke, Hermann-Josef
|
Koch-Hogrebe, Margarete
|
Alsaif, Hessa S.
|
Kahrizi, Kimia
|
Alzaidan, Hamad
|
Alawam, Bashayer S.
|
Tohary, Mohamed
|
Kraus, Cornelia
|
Endele, Sabine
|
Wadman, Erin
|
Kaplan, Julie D.
|
Efthymiou, Stephanie
|
Najmabadi, Hossein
|
Reis, André
|
Alkuraya, Fowzan S.
|
Wieczorek, Dagmar
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
Best Practices in Structural Neuroimaging of Neurodevelopmental Disorders
2021 .
Backhausen, Lea L.
|
Herting, Megan M.
|
Tamnes, Christian K.
|
Vetter, Nora C.
2021
http://purl.org/ontology/bibo/Article
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects
2021 .
Markus, Fenja
|
Kannengießer, Annika
|
Näder, Patricia
|
Atigbire, Paul
|
Scholten, Alexander
|
Vössing, Christine
|
Bültmann, Eva
|
Korenke, G. Christoph
|
Owczarek-Lipska, Marta
|
Neidhardt, John
2021
http://purl.org/ontology/bibo/Article
Interpersonal Cognitive Biases in Children and Young People with Neurodevelopmental Disorders: A Systematic Review
2021 .
Schmidt, Nora B.
|
Vereenooghe, Leen
2021
http://purl.org/ontology/bibo/Article
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
2020 .
Cooper, Alexis
|
Butto, Tamer
|
Hammer, Niklas
|
Jagannath, Somanath
|
Fend-Guella, Desiree Lucia
|
Akhtar, Junaid
|
Radyushkin, Konstantin
|
Lesage, Florian
|
Winter, Jennifer
|
Strand, Susanne
|
Roeper, Jochen
|
Zechner, Ulrich
|
Schweiger, Susann
2020
http://purl.org/ontology/bibo/Article
Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
2020 .
Rojas-Charry, Liliana
|
Nardi, Leonardo
|
Methner, Axel
|
Schmeisser, Michael
2020
http://purl.org/ontology/bibo/Article
Lysine Acetylation and Deacetylation in Brain Development and Neuropathies
2017 .
Tapias Soler, Alicia
|
wang, zhao-qi
2017
http://purl.org/ontology/bibo/Article