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Humans [MeSH]
(4)
Genetic Association Studies/methods [MeSH]
(4)
Genetic Predisposition to Disease [MeSH]
(3)
Phenotype [MeSH]
(2)
Neurodevelopmental Disorders/genetics [MeSH]
(2)
Neurodevelopmental Disorders/diagnosis [MeSH]
(2)
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(1)
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Artikel
(6)
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2021
(4)
2020
(2)
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Operations
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study
2021 .
Thye, Thorsten
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Evans, Jennifer A.
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Ruge, Gerd
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Loag, Wibke
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Ansong, Daniel
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Agbenyega, Tsiri
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Horstmann, Rolf D.
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May, Jürgen
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Schuldt, Kathrin
2021
http://purl.org/ontology/bibo/Article
Origins of human genetics. A personal perspective
2021 .
Passarge, Eberhard
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
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Kannengießer, Annika
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Näder, Patricia
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Atigbire, Paul
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Scholten, Alexander
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Vössing, Christine
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Bültmann, Eva
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Korenke, G. Christoph
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Owczarek-Lipska, Marta
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Neidhardt, John
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
|
Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways
2020 .
Nakamura, Hiroki
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Doi, Takashi
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Puri, Prem
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Friedmacher, Florian
2020
http://purl.org/ontology/bibo/Article
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
2020 .
Eggermann, Thomas
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Brück, Johanna
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Knopp, Cordula
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Fekete, György
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Kratz, Christian
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Tasic, Velibor
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Kurth, Ingo
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Elbracht, Miriam
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Eggermann, Katja
|
Begemann, Matthias
2020
http://purl.org/ontology/bibo/Article