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Sacherschließung
Humans [MeSH]
(13)
Genetic Testing [MeSH]
(13)
Female [MeSH]
(4)
Young Adult [MeSH]
(2)
Whole Exome Sequencing [MeSH]
(2)
Male [MeSH]
(2)
Human Genetics
(2)
Biomedicine, general
(2)
Adult [MeSH]
(2)
immunodeficiency
(1)
Publikationstyp
Erscheinungsjahr
2021
(9)
2020
(4)
Institution
13 Treffer
Seiten
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Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
2021 .
Solanich, Xavier
|
Vargas-Parra, Gardenia
|
van der Made, Caspar I.
|
Simons, Annet
|
Schuurs-Hoeijmakers, Janneke
|
Antolí, Arnau
|
del Valle, Jesús
|
Rocamora-Blanch, Gemma
|
Setién, Fernando
|
Esteller, Manel
|
van Reijmersdal, Simon V.
|
Riera-Mestre, Antoni
|
Sabater-Riera, Joan
|
Capellá, Gabriel
|
van de Veerdonk, Frank L.
|
van der Hoven, Ben
|
Corbella, Xavier
|
Hoischen, Alexander
|
Lázaro, Conxi
2021
http://purl.org/ontology/bibo/Article
Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature
2021 .
Hainz, Daniela
|
Krüger, Marcus
|
Reber, Daniela
|
Mehnert, Karl
|
Brunet, Theresa
|
Lederer, Gabriele
|
Langer-Freitag, Sabine
|
Hoefele, Julia
2021
http://purl.org/ontology/bibo/Article
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies
2021 .
Schlegelberger, Brigitte
|
Mecucci, Cristina
|
Wlodarski, Marcin
2021
http://purl.org/ontology/bibo/Article
Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report
2021 .
Wilbert, Friederike
|
Grünert, Sarah C.
|
Heinzmann, Andrea
|
Bode, Sebastian
2021
http://purl.org/ontology/bibo/Article
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
2021 .
Frühwald, Michael
|
Nemes, K.
|
Boztug, H.
|
Cornips, M. C. A.
|
Evans, Gareth
|
farah, roula
|
Glentis, Stavros
|
Jorgensen, M.
|
Katsibardi, Katerina
|
Hirsch, Steffen
|
Jahnukainen, K.
|
kventsel, iris
|
Kerl, Kornelius
|
Kratz, Christian
|
Pajtler, Kristian W.
|
Kordes, Uwe R.
|
Ridola, Vita
|
Stutz, E.
|
BOURDEAUT, Franck
2021
http://purl.org/ontology/bibo/Article
The importance of genetic testing for dystonia patients and translational research
2021 .
Pozojevic, Jelena
|
Beetz, Christian
|
Westenberger, Ana
2021
http://purl.org/ontology/bibo/Article
The fetus in the age of the genome
2021 .
, Dagmar
|
Henn, Wolfram
2021
http://purl.org/ontology/bibo/Article
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
2021 .
Ripperger, Tim
|
Evans, D Gareth
|
Malkin, David
|
Kratz, Christian
2021
http://purl.org/ontology/bibo/Article
Solving the unsolved rare diseases in Europe
2021 .
Graessner, Holm
|
Zurek, Birte
|
Hoischen, Alexander
|
Beltran, Sergi
2021
http://purl.org/ontology/bibo/Article
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS
2020 .
Braunisch, Matthias Christoph
|
Riedhammer, Korbinian Maria
|
Herr, Pierre-Maurice
|
Draut, Sarah
|
Günthner, Roman
|
Wagner, Matias
|
Weidenbusch, Marc
|
Lungu, Adrian
|
Alhaddad, Bader
|
Renders, Lutz
|
Strom, Tim M.
|
Heemann, Uwe
|
Meitinger, Thomas
|
Schmaderer, Christoph
|
Hoefele, Julia
2020
http://purl.org/ontology/bibo/Article
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