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2021
[x]
Sacherschließung
Research
(2)
Neurodevelopmental Disorders/genetics [MeSH]
(2)
Zebrafish [MeSH]
(1)
Systems Biology
(1)
Short stature
(1)
RNA Helicases/metabolism [MeSH]
(1)
RNA Helicases/genetics [MeSH]
(1)
RNA Helicases/chemistry [MeSH]
(1)
Phenotype [MeSH]
(1)
Neurodevelopmental disorder
(1)
Publikationstyp
Artikel
(2)
Erscheinungsjahr
Institution
2 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
2021 .
Hüffmeier, Ulrike
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Kraus, Cornelia
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Reuter, Miriam S.
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Uebe, Steffen
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Abbott, Mary-Alice
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Ahmed, Syed A.
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Rawson, Kristyn L.
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Barr, Eileen
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Li, Hong
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Bruel, Ange-Line
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Faivre, Laurence
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Tran Mau-Them, Frédéric
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Botti, Christina
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Brooks, Susan
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Burns, Kaitlyn
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Ward, D. Isum
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Dutra-Clarke, Marina
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Martinez-Agosto, Julian A.
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Lee, Hane
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Nelson, Stanley F.
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Zacher, Pia
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Abou Jamra, Rami
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Klöckner, Chiara
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McGaughran, Julie
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Kohlhase, Jürgen
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Schuhmann, Sarah
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Moran, Ellen
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Pappas, John
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Raas-Rothschild, Annick
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Sacoto, Maria J. Guillen
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Henderson, Lindsay B.
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Palculict, Timothy Blake
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Mullegama, Sureni V.
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Zghal Elloumi, Houda
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Reich, Adi
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Schrier Vergano, Samantha A.
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Wahl, Erica
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Reis, André
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Zweier, Christiane
2021
http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 .
Mannucci, Ilaria
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Dang, Nghi D. P.
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Huber, Hannes
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Murry, Jaclyn B.
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Abramson, Jeff
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Althoff, Thorsten
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Banka, Siddharth
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Baynam, Gareth
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Bearden, David
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Beleza-Meireles, Ana
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Benke, Paul J.
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Berland, Siren
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Bierhals, Tatjana
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Bilan, Frederic
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Bindoff, Laurence A.
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Braathen, Geir Julius
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Busk, Øyvind L.
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Chenbhanich, Jirat
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Denecke, Jonas
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Escobar, Luis F.
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Estes, Caroline
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Fleischer, Julie
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Groepper, Daniel
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Haaxma, Charlotte A.
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Hempel, Maja
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Holler-Managan, Yolanda
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Houge, Gunnar
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Jackson, Adam
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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
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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
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Whitlock, Jordan H.
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Zweier, Christiane
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McWalter, Kirsty
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Juusola, Jane
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Quintero-Rivera, Fabiola
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Fischer, Utz
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Yeo, Nan Cher
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Kreienkamp, Hans-Jürgen
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Lessel, Davor
2021
http://purl.org/ontology/bibo/Article