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2021
[x]
Sacherschließung
Neurodevelopmental Disorders/genetics [MeSH]
(2)
Zebrafish [MeSH]
(1)
Young Adult [MeSH]
(1)
Systems Biology
(1)
Research
(1)
RNA Helicases/metabolism [MeSH]
(1)
RNA Helicases/genetics [MeSH]
(1)
RNA Helicases/chemistry [MeSH]
(1)
Phenotype [MeSH]
(1)
Pedigree [MeSH]
(1)
Publikationstyp
Artikel
(2)
Erscheinungsjahr
Institution
2 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
2021 .
Parenti, Ilaria
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Lehalle, Daphné
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Nava, Caroline
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Torti, Erin
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Leitão, Elsa
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Person, Richard
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Mizuguchi, Takeshi
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Matsumoto, Naomichi
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Kato, Mitsuhiro
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Nakamura, Kazuyuki
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de Man, Stella
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Cope, Heidi
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Shashi, Vandana
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Friedman, Jennifer
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Joset, Pascal
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Steindl, Katharina
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Rauch, Anita
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Muffels, Irena
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van Hasselt, Peter M
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petit, florence
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Smol, Thomas
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Le Guyader, Gwenaël
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Bilan, Frédéric
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Sorlin, Arthur
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Vitobello, Antonio
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PHILIPPE, Christophe
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van de Laar, Ingrid
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van Slegtenhorst, Marjon A.
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Campeau, Philippe
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Au, Ping Yee
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Nakashima, Mitsuko
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Saitsu, Hirotomo
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Yamamoto, Tatsuya
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Nomura, Yumiko
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Louie, Raymond
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Lyons, Michael
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Dobson, Amy
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Plomp, Astrid S.
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Motazacker, M. Mahdi
|
Kaiser, Frank J.
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Timberlake, Andrew
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Fuchs, Sabine
|
Depienne, Christel
|
Mignot, Cyril
2021
http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 .
Mannucci, Ilaria
|
Dang, Nghi D. P.
|
Huber, Hannes
|
Murry, Jaclyn B.
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Abramson, Jeff
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Althoff, Thorsten
|
Banka, Siddharth
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Baynam, Gareth
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Bearden, David
|
Beleza-Meireles, Ana
|
Benke, Paul J.
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Berland, Siren
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Bierhals, Tatjana
|
Bilan, Frederic
|
Bindoff, Laurence A.
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Braathen, Geir Julius
|
Busk, Øyvind L.
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Chenbhanich, Jirat
|
Denecke, Jonas
|
Escobar, Luis F.
|
Estes, Caroline
|
Fleischer, Julie
|
Groepper, Daniel
|
Haaxma, Charlotte A.
|
Hempel, Maja
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Holler-Managan, Yolanda
|
Houge, Gunnar
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Jackson, Adam
|
Kellogg, Laura
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Keren, Boris
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Kiraly-Borri, Catherine
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Kraus, Cornelia
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Kubisch, Christian
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Le Guyader, Gwenael
|
Ljungblad, Ulf W.
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Brenman, Leslie Manace
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Martinez-Agosto, Julian A.
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Might, Matthew
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Miller, David T.
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Minks, Kelly Q.
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Moghaddam, Billur
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Nava, Caroline
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Nelson, Stanley F.
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Parant, John M.
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Prescott, Trine
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Rajabi, Farrah
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Randrianaivo, Hanitra
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Reiter, Simone F.
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Schuurs-Hoeijmakers, Janneke
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Shieh, Perry B.
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Slavotinek, Anne
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Smithson, Sarah
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Stegmann, Alexander P. A.
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Tomczak, Kinga
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Tveten, Kristian
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Wang, Jun
|
Whitlock, Jordan H.
|
Zweier, Christiane
|
McWalter, Kirsty
|
Juusola, Jane
|
Quintero-Rivera, Fabiola
|
Fischer, Utz
|
Yeo, Nan Cher
|
Kreienkamp, Hans-Jürgen
|
Lessel, Davor
2021
http://purl.org/ontology/bibo/Article