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
Phenotype [MeSH]
(4)
Neurodevelopmental Disorders/genetics [MeSH]
(3)
Mutation [MeSH]
(3)
Humans [MeSH]
(3)
Research
(2)
Human Genetics
(2)
Zebrafish [MeSH]
(1)
Young Adult [MeSH]
(1)
Twins, Monozygotic [MeSH]
(1)
Systems Biology
(1)
Publikationstyp
Artikel
(4)
Erscheinungsjahr
2021
(4)
Institution
4 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
2021 .
Bley, Annette
|
Denecke, Jonas
|
Kohlschütter, Alfried
|
Schön, Gerhard
|
Hischke, Sandra
|
Guder, Philipp
|
Bierhals, Tatjana
|
Lau, Heather
|
Hempel, Maja
|
Eichler, Florian S.
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
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
2021 .
Kreienkamp, Hans-Jürgen
|
Wagner, Matias
|
Weigand, Heike
|
McConkie-Rossell, Allyn
|
McDonald, Marie
|
Keren, Boris
|
Mignot, Cyril
|
Gauthier, Julie
|
Soucy, Jean-François
|
Michaud, Jacques L.
|
Dumas, Meghan
|
Smith, Rosemarie
|
Löbel, Ulrike
|
Hempel, Maja
|
Kubisch, Christian
|
Denecke, Jonas
|
Campeau, Philippe M.
|
Bain, Jennifer M.
|
Lessel, Davor
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.
|
Abramson, Jeff
|
Althoff, Thorsten
|
Banka, Siddharth
|
Baynam, Gareth
|
Bearden, David
|
Beleza-Meireles, Ana
|
Benke, Paul J.
|
Berland, Siren
|
Bierhals, Tatjana
|
Bilan, Frederic
|
Bindoff, Laurence A.
|
Braathen, Geir Julius
|
Busk, Øyvind L.
|
Chenbhanich, Jirat
|
Denecke, Jonas
|
Escobar, Luis F.
|
Estes, Caroline
|
Fleischer, Julie
|
Groepper, Daniel
|
Haaxma, Charlotte A.
|
Hempel, Maja
|
Holler-Managan, Yolanda
|
Houge, Gunnar
|
Jackson, Adam
|
Kellogg, Laura
|
Keren, Boris
|
Kiraly-Borri, Catherine
|
Kraus, Cornelia
|
Kubisch, Christian
|
Le Guyader, Gwenael
|
Ljungblad, Ulf W.
|
Brenman, Leslie Manace
|
Martinez-Agosto, Julian A.
|
Might, Matthew
|
Miller, David T.
|
Minks, Kelly Q.
|
Moghaddam, Billur
|
Nava, Caroline
|
Nelson, Stanley F.
|
Parant, John M.
|
Prescott, Trine
|
Rajabi, Farrah
|
Randrianaivo, Hanitra
|
Reiter, Simone F.
|
Schuurs-Hoeijmakers, Janneke
|
Shieh, Perry B.
|
Slavotinek, Anne
|
Smithson, Sarah
|
Stegmann, Alexander P. A.
|
Tomczak, Kinga
|
Tveten, Kristian
|
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