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Whole Exome Sequencing [MeSH]
(10)
Humans [MeSH]
(10)
Male [MeSH]
(4)
Female [MeSH]
(4)
Phenotype [MeSH]
(3)
Targeting cancer evolution in the clinic
(2)
Point Mutation [MeSH]
(2)
Pedigree [MeSH]
(2)
Exome [MeSH]
(2)
Child, Preschool [MeSH]
(2)
Publikationstyp
Artikel
(10)
Erscheinungsjahr
2021
(7)
2020
(3)
Institution
10 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine
2021 .
Röcken, Christoph
|
Amallraja, Anu
|
Halske, Christine
|
Opasic, Luka
|
Traulsen, Arne
|
Behrens, Hans-Michael
|
Krüger, Sandra
|
Liu, Anne
|
Haag, Jochen
|
Egberts, Jan-Hendrik
|
Rosenstiel, Philip
|
Meißner, Tobias
2021
http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
2021 .
Buelow, Markus
|
Süßmuth, David
|
Smith, Laurie D.
|
Aryani, Omid
|
CASTIGLIONI, CLAUDIA
|
Stenzel, Werner
|
Bertini, Enrico
|
Schuelke, Markus
|
Knierim, Ellen
2021
http://purl.org/ontology/bibo/Article
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
2021 .
Averdunk, Luisa
|
Sticht, Heinrich
|
Surowy, Harald
|
Lüdecke, Hermann-Josef
|
Koch-Hogrebe, Margarete
|
Alsaif, Hessa S.
|
Kahrizi, Kimia
|
Alzaidan, Hamad
|
Alawam, Bashayer S.
|
Tohary, Mohamed
|
Kraus, Cornelia
|
Endele, Sabine
|
Wadman, Erin
|
Kaplan, Julie D.
|
Efthymiou, Stephanie
|
Najmabadi, Hossein
|
Reis, André
|
Alkuraya, Fowzan S.
|
Wieczorek, Dagmar
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
|
Hübner, Christian Thomas
|
Dey, Daniela
|
Kuechler, Alma
|
Elgizouli, Magdeldin
|
Schara, Ulrike
|
Ambrozaityte, Laima
|
Burnyte, Birute
|
Schröder, Carmen
|
Kenawy, Asmaa
|
Kroisel, Peter
|
Demuth, Stephanie
|
Fekete, Gyorgy
|
Opladen, Thomas
|
Elbracht, Miriam
|
Eggermann, Thomas
2021
http://purl.org/ontology/bibo/Article
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
2021 .
Shalash, Ali
|
Rösler, Thomas W.
|
Salama, Mohamed
|
Pendziwiat, Manuela
|
Müller, Stefanie H.
|
Hopfner, Franziska
|
Höglinger, Günter
|
Kuhlenbaeumer, Gregor
2021
http://purl.org/ontology/bibo/Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
2021 .
Vona, Barbara
|
Mazaheri, Neda
|
Lin, Sheng-Jia
|
Dunbar, Lucy
|
Maroofian, Reza
|
Azaiez, Hela
|
Booth, Kevin T.
|
Vitry, Sandrine
|
Rad, Abolfazl
|
Rüschendorf, Franz
|
Varshney, Pratishtha
|
Fowler, Ben
|
Beetz, Christian
|
Alagramam, Kumar N.
|
Murphy, David
|
Shariati, Gholamreza
|
Sedaghat, Alireza
|
Houlden, Henry
|
Petree, Cassidy
|
VijayKumar, Shruthi
|
Smith, Richard
|
Haaf, Thomas
|
EL-AMRAOUI, Aziz
|
Bowl, Michael
|
Varshney, Gaurav K.
|
Galehdari, Hamid
2021
http://purl.org/ontology/bibo/Article
Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models
2021 .
Vangala, Deepak
|
Ladigan, Swetlana
|
Liffers, Sven T.
|
Noseir, Soha
|
Maghnouj, Abdelouahid
|
Götze, Tina-Maria
|
Verdoodt, Berlinda
|
Klein-Scory, Susanne
|
Godfrey, Laura
|
Zowada, Martina K.
|
Huerta, Mario
|
Edelstein, Daniel L.
|
de Villarreal, Jaime Martinez
|
Marqués, Miriam
|
Kumbrink, Jörg
|
Jung, Andreas
|
Schiergens, Tobias
|
Werner, Jens
|
Heinemann, Volker
|
Stintzing, Sebastian
|
Lindoerfer, Doris
|
Mansmann, Ulrich
|
Pohl, Michael
|
Teschendorf, Christian
|
Bernhardt, Christiane
|
Wolters, Heiner
|
Stern, Josef
|
Usta, Selami
|
Viebahn, Richard
|
Admard, Jacob
|
Casadei, Nicolas
|
Fröhling, Stefan
|
Ball, Claudia R.
|
Siveke, Jens T.
|
Glimm, Hanno
|
Tannapfel, Andrea
|
Schmiegel, Wolff
|
Hahn, Stephan
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
Comprehensive genomic characterization of gene therapy-induced T-cell acute lymphoblastic leukemia
2020 .
Horak, Peter
|
Uhrig, Sebastian
|
Witzel, Maximilian
|
Gil-Farina, Irene
|
Hutter, Barbara
|
Rath, Tim
|
Gieldon, Laura
|
Balasubramanian, Gnana Prakash
|
Pastor, Xavier
|
Heilig, Christoph E.
|
Richter, Daniela
|
Schröck, Evelin
|
Ball, Claudia R.
|
Brors, Benedikt
|
Braun, Christian Joerg
|
Albert, Michael H.
|
Scholl, Claudia
|
von Kalle, Christof
|
Schmidt, Manfred
|
Fröhling, Stefan
|
Klein, Christoph
|
Glimm, Hanno
2020
http://purl.org/ontology/bibo/Article
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage
2020 .
Sauvigny, Thomas
|
Alawi, Malik
|
Krause, Linda
|
Renner, Sina
|
Spohn, Michael
|
Busch, Alice
|
Kolbe, Verena
|
Altmüller, Janine
|
Löscher, Britt-Sabina
|
Franke, Andre
|
Brockmann, Christian
|
Lieb, Wolfgang
|
Westphal, Manfred
|
Schmidt, Nils Ole
|
Regelsberger, Jan
|
Rosenberger, Georg
2020
http://purl.org/ontology/bibo/Article