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Sacherschließung
Humans [MeSH]
(4)
Pedigree [MeSH]
(3)
Male [MeSH]
(3)
Phenotype [MeSH]
(2)
Whole Genome Sequencing [MeSH]
(1)
Up-Regulation [MeSH]
(1)
Unusual phenotype
(1)
Ubiquitin-Activating Enzymes/genetics [MeSH]
(1)
Ubiquitin-Activating Enzymes/deficiency [MeSH]
(1)
Transcriptome [MeSH]
(1)
Publikationstyp
Artikel
(5)
Medium
Erscheinungsjahr
2021
(4)
2020
(1)
Institution
5 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
2021 .
Haag, Natja
|
Tan, Ene-Choo
|
Begemann, Matthias
|
Buschmann, Lars
|
Kraft, Florian
|
Holschbach, Petra
|
Lai, Angeline H. M.
|
Brett, Maggie
|
Mochida, Ganeshwaran H.
|
DiTroia, Stephanie
|
Pais, Lynn
|
Neil, Jennifer E.
|
Al-Saffar, Muna
|
Bastaki, Laila
|
Walsh, Christopher
|
Kurth, Ingo
|
Knopp, Cordula
2021
http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations
2021 .
Elsner, Jonas
|
Mensah, Martin A.
|
Holtgrewe, Manuel
|
Hertzberg, Jakob
|
Bigoni, Stefania
|
Busche, Andreas
|
Coutelier, Marie
|
de Silva, Deepthi C.
|
Elçioglu, Nursel
|
Filges, Isabel
|
Gerkes, Erica
|
Girisha, Katta M.
|
Graul-Neumann, Luitgard
|
Jamsheer, Aleksander
|
Krawitz, Peter
|
Kurth, Ingo
|
Markus, Susanne
|
Megarbane, Andre
|
Reis, André
|
Reuter, Miriam S.
|
Svoboda, Daniel
|
Teller, Christopher
|
Tuysuz, Beyhan
|
Türkmen, Seval
|
Wilson, Meredith
|
Woitschach, Rixa
|
Vater, Inga
|
Caliebe, Almuth
|
Hülsemann, Wiebke
|
Horn, Denise
|
Mundlos, Stefan
|
Spielmann, Malte
2021
http://purl.org/ontology/bibo/Article
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
2021 .
Venger, Kateryna
|
Elbracht, Miriam
|
Carlens, Julia
|
Deutz, Peter
|
Zeppernick, Felix
|
Lassay, Lisa
|
Kratz, Christian
|
Zenker, Martin
|
Kim, Jung
|
Stewart, Douglas R.
|
Wieland, Ilse
|
Schultz, Kris Ann P.
|
Schwerk, Nicolaus
|
Kurth, Ingo
|
Kontny, Udo
2021
http://purl.org/ontology/bibo/Article
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients
2021 .
Aschenbrenner, Anna C.
|
Mouktaroudi, Maria
|
Krämer, Benjamin
|
Oestreich, Marie
|
Antonakos, Nikolaos
|
Nuesch-Germano, Melanie
|
Gkizeli, Konstantina
|
Bonaguro, Lorenzo
|
Reusch, Nico
|
Baßler, Kevin
|
Saridaki, Maria
|
Knoll, Rainer
|
Pecht, Tal
|
Kapellos, Theodore S.
|
Doulou, Sarandia
|
Kröger, Charlotte
|
Herbert, Miriam
|
Holsten, Lisa
|
Horne, Arik
|
Gemünd, Ioanna D.
|
Rovina, Nikoletta
|
Agrawal, Shobhit
|
Dahm, Kilian
|
van Uelft, Martina
|
Drews, Anna
|
Lenkeit, Lena
|
Bruse, Niklas
|
Gerretsen, Jelle
|
Gierlich, Jannik
|
Becker, Matthias
|
Händler, Kristian
|
Kraut, Michael
|
Theis, Heidi
|
Mengiste, Simachew
|
De Domenico, Elena
|
Schulte-Schrepping, Jonas
|
Seep, Lea
|
Raabe, Jan
|
Hoffmeister, Christoph
|
ToVinh, Michael
|
Keitel, Verena
|
Rieke, Gereon
|
Talevi, Valentina
|
Skowasch, Dirk
|
Aziz, N. Ahmad
|
Pickkers, Peter
|
van de Veerdonk, Frank L.
|
Netea, Mihai G.
|
Kox, Matthijs
|
Breteler, Monique M. B.
|
Nattermann, Jacob
|
Koutsoukou, Antonia
|
Giamarellos-Bourboulis, Evangelos J.
|
Ulas, Thomas
|
Altmüller, Janine
|
Angelov, Angel
|
Bals, Robert
|
Bartholomäus, Alexander
|
Becker, Anke
|
Bitzer, Michael
|
Bonifacio, Ezio
|
Bork, Peer
|
Casadei, Nicolas
|
Clavel, Thomas
|
Colome-Tatche, Maria
|
Diefenbach, Andreas
|
Dilthey, Alexander
|
Fischer, Nicole
|
Förstner, Konrad
|
Franzenburg, Sören
|
Frick, Julia-Stefanie
|
Gabernet, Gisela
|
Gagneur, Julien
|
Ganzenmüller, Tina
|
Göpel, Siri
|
Goesmann, Alexander
|
Hain, Torsten
|
Heimbach, André
|
Hummel, Michael
|
Iftner, Angelika
|
Iftner, Thomas
|
Janssen, Stefan
|
Kalinowski, Jörn
|
Kallies, René
|
Kehr, Birte
|
Keller, Andreas
|
Kim-Hellmuth, Sarah
|
Klein, Christoph
|
Kohlbacher, Oliver
|
Köhrer, Karl
|
Korbel, Jan
|
Kühnert, Denise
|
Kurth, Ingo
|
Landthaler, Markus
|
Li, Yang
|
Ludwig, Kerstin
|
Makarewicz, Oliwia
|
Marz, Manja
|
McHardy, Alice
|
Mertes, Christian
|
Nöthen, Markus
|
Nürnberg, Peter
|
Ohler, Uwe
|
Ossowski, Stephan
|
Overmann, Jörg
|
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
|
Sawitzki, Birgit
|
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
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
|
Brück, Johanna
|
Knopp, Cordula
|
Fekete, György
|
Kratz, Christian
|
Tasic, Velibor
|
Kurth, Ingo
|
Elbracht, Miriam
|
Eggermann, Katja
|
Begemann, Matthias
2020
http://purl.org/ontology/bibo/Article