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Sacherschließung
Phenotype [MeSH]
(15)
Humans [MeSH]
(13)
Male [MeSH]
(5)
Female [MeSH]
(4)
Prognosis [MeSH]
(2)
Middle Aged [MeSH]
(2)
Genetic Predisposition to Disease [MeSH]
(2)
Adult [MeSH]
(2)
iPSC
(1)
Publikationstyp
Artikel
(15)
Erscheinungsjahr
2021
(10)
2020
(5)
Institution
15 Treffer
Seiten
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
2021 .
Bley, Annette
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Denecke, Jonas
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Kohlschütter, Alfried
|
Schön, Gerhard
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Hischke, Sandra
|
Guder, Philipp
|
Bierhals, Tatjana
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Lau, Heather
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Hempel, Maja
|
Eichler, Florian S.
2021
http://purl.org/ontology/bibo/Article
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
2021 .
Körber, Laura
|
Schneider, Holm
|
Fleischer, Nicole
|
Maier-Wohlfart, Sigrun
2021
http://purl.org/ontology/bibo/Article
Dysregulated paired related homeobox 1 impacts on hepatocellular carcinoma phenotypes
2021 .
Piorońska, Weronika
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Nwosu, Zeribe Chike
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Han, Mei
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Büttner, Michael
|
Ebert, Matthias Philip
|
Dooley, Steven
|
Meyer, Christoph
2021
http://purl.org/ontology/bibo/Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
2021 .
Meyer, Robert
|
Begemann, Matthias
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Hübner, Christian Thomas
|
Dey, Daniela
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Kuechler, Alma
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Elgizouli, Magdeldin
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Schara, Ulrike
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Ambrozaityte, Laima
|
Burnyte, Birute
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Schröder, Carmen
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Kenawy, Asmaa
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Kroisel, Peter
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Demuth, Stephanie
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Fekete, Gyorgy
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Opladen, Thomas
|
Elbracht, Miriam
|
Eggermann, Thomas
2021
http://purl.org/ontology/bibo/Article
Loss of RANBP3L leads to transformation of renal epithelial cells towards a renal clear cell carcinoma like phenotype
2021 .
Chernyakov, Dmitry
|
Groß, Alexander
|
Fischer, Annika
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Bornkessel, Nicola
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Schultheiss, Christoph
|
Gerloff, Dennis
|
Edemir, Bayram
2021
http://purl.org/ontology/bibo/Article
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
2021 .
Eggermann, Thomas
|
Begemann, Matthias
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Pfeiffer, Lutz
2021
http://purl.org/ontology/bibo/Article
Astrocyte-specific expression of interleukin 23 leads to an aggravated phenotype and enhanced inflammatory response with B cell accumulation in the EAE model
2021 .
Nitsch, Louisa
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Petzinna, Simon
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Zimmermann, Julian
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Schneider, Linda
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Krauthausen, Marius
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Heneka, Michael T.
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Getts, Daniel R.
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Becker, Albert
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Müller, Marcus
2021
http://purl.org/ontology/bibo/Article
Polygenic risk for coronary artery disease in the Scottish and English population
2021 .
Yang, Chuhua
|
Starnecker, Fabian
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Pang, Shichao
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Chen, Zhifen
|
Güldener, Ulrich
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Li, Ling
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Heinig, Matthias
|
Schunkert, Heribert
2021
http://purl.org/ontology/bibo/Article
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients
2021 .
Aschenbrenner, Anna C.
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Mouktaroudi, Maria
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Krämer, Benjamin
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Oestreich, Marie
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Antonakos, Nikolaos
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Nuesch-Germano, Melanie
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Gkizeli, Konstantina
|
Bonaguro, Lorenzo
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Reusch, Nico
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Baßler, Kevin
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Saridaki, Maria
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Knoll, Rainer
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Pecht, Tal
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Kapellos, Theodore S.
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Doulou, Sarandia
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Kröger, Charlotte
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Herbert, Miriam
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Holsten, Lisa
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Horne, Arik
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Gemünd, Ioanna D.
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Rovina, Nikoletta
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Agrawal, Shobhit
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Dahm, Kilian
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van Uelft, Martina
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Drews, Anna
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Lenkeit, Lena
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Bruse, Niklas
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Gerretsen, Jelle
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Gierlich, Jannik
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Becker, Matthias
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Händler, Kristian
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Kraut, Michael
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Theis, Heidi
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Mengiste, Simachew
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De Domenico, Elena
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Schulte-Schrepping, Jonas
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Seep, Lea
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Raabe, Jan
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Hoffmeister, Christoph
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ToVinh, Michael
|
Keitel, Verena
|
Rieke, Gereon
|
Talevi, Valentina
|
Skowasch, Dirk
|
Aziz, N. Ahmad
|
Pickkers, Peter
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van de Veerdonk, Frank L.
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Netea, Mihai G.
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Kox, Matthijs
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Breteler, Monique M. B.
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Nattermann, Jacob
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Koutsoukou, Antonia
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Giamarellos-Bourboulis, Evangelos J.
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Ulas, Thomas
|
Altmüller, Janine
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Angelov, Angel
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Bals, Robert
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Bartholomäus, Alexander
|
Becker, Anke
|
Bitzer, Michael
|
Bonifacio, Ezio
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Bork, Peer
|
Casadei, Nicolas
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Clavel, Thomas
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Colome-Tatche, Maria
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Diefenbach, Andreas
|
Dilthey, Alexander
|
Fischer, Nicole
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Förstner, Konrad
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Franzenburg, Sören
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Frick, Julia-Stefanie
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Gabernet, Gisela
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Gagneur, Julien
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Ganzenmüller, Tina
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Göpel, Siri
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Goesmann, Alexander
|
Hain, Torsten
|
Heimbach, André
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Hummel, Michael
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Iftner, Angelika
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Iftner, Thomas
|
Janssen, Stefan
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Kalinowski, Jörn
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Kallies, René
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Kehr, Birte
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Keller, Andreas
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Kim-Hellmuth, Sarah
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Klein, Christoph
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Kohlbacher, Oliver
|
Köhrer, Karl
|
Korbel, Jan
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Kühnert, Denise
|
Kurth, Ingo
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Landthaler, Markus
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Li, Yang
|
Ludwig, Kerstin
|
Makarewicz, Oliwia
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Marz, Manja
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McHardy, Alice
|
Mertes, Christian
|
Nöthen, Markus
|
Nürnberg, Peter
|
Ohler, Uwe
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Ossowski, Stephan
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Overmann, Jörg
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Pfeffer, Klaus
|
Poetsch, Anna R.
|
Pühler, Alfred
|
Rajewsky, Nikolaus
|
Ralser, Markus
|
Rieß, Olaf
|
Ripke, Stephan
|
Nunes da Rocha, Ulisses
|
Rosenstiel, Philip
|
Saliba, Antoine-Emmanuel
|
Sander, Leif Erik
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Sawitzki, Birgit
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Schiffer, Philipp
|
Schneider, Wulf
|
Schulte, Eva-Christina
|
Schultze, Joachim L.
|
Sczyrba, Alexander
|
Singh, Yogesh
|
Sonnabend, Michael
|
Stegle, Oliver
|
Stoye, Jens
|
Theis, Fabian
|
Vehreschild, Janne
|
Vogel, Jörg
|
von Kleist, Max
|
Walker, Andreas
|
Walter, Jörn
|
Wieczorek, Dagmar
|
Winkler, Sylke
|
Ziebuhr, John
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
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Murry, Jaclyn B.
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Abramson, Jeff
|
Althoff, Thorsten
|
Banka, Siddharth
|
Baynam, Gareth
|
Bearden, David
|
Beleza-Meireles, Ana
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Benke, Paul J.
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Berland, Siren
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Bierhals, Tatjana
|
Bilan, Frederic
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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
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Kiraly-Borri, Catherine
|
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.
|
Might, Matthew
|
Miller, David T.
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Minks, Kelly Q.
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Moghaddam, Billur
|
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
|
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
|
Fischer, Utz
|
Yeo, Nan Cher
|
Kreienkamp, Hans-Jürgen
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Lessel, Davor
2021
http://purl.org/ontology/bibo/Article
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