Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Genetics And Molecular Biology
Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R
Publication Date: 2019
Variant appearance in text: GAA: -32-13T>G; rs386834236
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Journal Of Human Genetics
Reddy, Hemakumar M HM; Cho, Kyung-Ah KA; Lek, Monkol M; Estrella, Elicia E; Valkanas, Elise E; Jones, Michael D MD; Mitsuhashi, Satomi S; Darras, Basil T BT; Amato, Anthony A AA; Lidov, Hart Gw HG; Brownstein, Catherine A CA; Margulies, David M DM; Yu, Timothy W TW; Salih, Mustafa A MA; Kunkel, Louis M LM; MacArthur, Daniel G DG; Kang, Peter B PB
Publication Date: 2017-02
Variant appearance in text: GAA: -32-13T>G; rs386834236