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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes 2024 . Sorrentino, Ugo \| Boesch, Sylvia \| Doummar, Diane \| Ravelli, Claudia \| Serranova, Tereza \| Indelicato, Elisabetta \| Winkelmann, Juliane \| Burglen, Lydie \| Jech, Robert \| Zech, Michael	2024		http://purl.org/ontology/bibo/Article
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	2024		http://purl.org/ontology/bibo/Article
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly 2024 . Herbst, Charlotte \| Bothe, Viktoria \| Wegler, Meret \| Axer-Schaefer, Susanne \| Audebert-Bellanger, Séverine \| Gecz, Jozef \| Cogne, Benjamin \| Feldman, Hagit Baris \| Horn, Anselm H. C. \| Hurst, Anna C. E. \| Kelly, Melissa A. \| Kruer, Michael C. \| Kurolap, Alina \| Laquerriere, Annie \| Li, Megan \| Mark, Paul R. \| Morawski, Markus \| Nizon, Mathilde \| Pastinen, Tomi \| Polster, Tilman \| Saugier-Veber, Pascale \| SeSong, Jang \| Sticht, Heinrich \| Stieler, Jens T. \| Thifffault, Isabelle \| van Eyk, Clare L. \| Marcorelles, Pascale \| Vezain-Mouchard, Myriam \| Abou Jamra, Rami \| Oppermann, Henry	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 \| 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
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly 2023 . Uctepe, Eyyup \| Vona, Barbara \| Esen, Fatma Nisa \| Sonmez, F. Mujgan \| Smol, Thomas \| Tümer, Sait \| Mancılar, Hanifenur \| Geylan Durgun, Dilan Ece \| Boute, Odile \| Moghbeli, Meysam \| Ghayoor Karimiani, Ehsan \| Hashemi, Narges \| Bakhshoodeh, Behnoosh \| Kim, Hyung Goo \| Maroofian, Reza \| Yesilyurt, Ahmet	2023		http://purl.org/ontology/bibo/Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum 2021 . Hüffmeier, Ulrike \| Kraus, Cornelia \| Reuter, Miriam S. \| Uebe, Steffen \| Abbott, Mary-Alice \| Ahmed, Syed A. \| Rawson, Kristyn L. \| Barr, Eileen \| Li, Hong \| Bruel, Ange-Line \| Faivre, Laurence \| Tran Mau-Them, Frédéric \| Botti, Christina \| Brooks, Susan \| Burns, Kaitlyn \| Ward, D. Isum \| Dutra-Clarke, Marina \| Martinez-Agosto, Julian A. \| Lee, Hane \| Nelson, Stanley F. \| Zacher, Pia \| Abou Jamra, Rami \| Klöckner, Chiara \| McGaughran, Julie \| Kohlhase, Jürgen \| Schuhmann, Sarah \| Moran, Ellen \| Pappas, John \| Raas-Rothschild, Annick \| Sacoto, Maria J. Guillen \| Henderson, Lindsay B. \| Palculict, Timothy Blake \| Mullegama, Sureni V. \| Zghal Elloumi, Houda \| Reich, Adi \| Schrier Vergano, Samantha A. \| Wahl, Erica \| Reis, André \| Zweier, Christiane	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
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 . Kloth, Katja \| Lozic, Bernarda \| Tagoe, Julia \| Hoffer, Mariëtte J. V. \| Van der Ven, Amelie \| Thiele, Holger \| Altmüller, Janine \| Kubisch, Christian \| Au, Ping Yee Billie \| Denecke, Jonas \| Bijlsma, Emilia K. \| Lessel, Davor	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

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