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Material Type: Artigo
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In-vitro-Modellierung der Noonan-Syndrom-assoziierten KardiomyopathieKleemann, Karolin ; Pietras, Jan Patrick ; Hofbeck, Michael ; Kutschka, Ingo ; Zenker, Martin ; Kensah, GeorgeZeitschrift für Herz-, Thorax- und Gefässchirurgie, 2023-06, Vol.37 (3-4), p.164-171Heidelberg: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Wichtige Studien vom ASH 2021Wörmann, BernhardBest practice onkologie, 2022-06, Vol.17 (6), p.266-268 [Periódico revisado por pares]Heidelberg: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Myelodysplastische SyndromeRautenberg, C ; Kondakci, M ; Nusch, A ; Kaivers, J ; Götze, K ; Haas, R ; Schroeder, T ; Germing, UBest practice onkologie, 2021-03, Vol.16 (3), p.112-121 [Periódico revisado por pares]Heidelberg: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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Mechanisms of viral mutationSanjuán, Rafael ; Domingo-Calap, PilarCellular and Molecular Life Sciences, 2016-12, Vol.73 (23), p.4433-4448 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Molecular epidemiology and diagnostics of KRAS mutations in human cancerTimar, Jozsef ; Kashofer, KarlCancer and metastasis reviews, 2020-12, Vol.39 (4), p.1029-1038 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesPerenthaler, Elena ; Nikoncuk, Anita ; Yousefi, Soheil ; Berdowski, Woutje M. ; Alsagob, Maysoon ; Capo, Ivan ; van der Linde, Herma C. ; van den Berg, Paul ; Jacobs, Edwin H. ; Putar, Darija ; Ghazvini, Mehrnaz ; Aronica, Eleonora ; van IJcken, Wilfred F. J. ; de Valk, Walter G. ; Medici-van den Herik, Evita ; van Slegtenhorst, Marjon ; Brick, Lauren ; Kozenko, Mariya ; Kohler, Jennefer N. ; Bernstein, Jonathan A. ; Monaghan, Kristin G. ; Begtrup, Amber ; Torene, Rebecca ; Al Futaisi, Amna ; Al Murshedi, Fathiya ; Mani, Renjith ; Al Azri, Faisal ; Kamsteeg, Erik-Jan ; Mojarrad, Majid ; Eslahi, Atieh ; Khazaei, Zaynab ; Darmiyan, Fateme Massinaei ; Doosti, Mohammad ; Karimiani, Ehsan Ghayoor ; Vandrovcova, Jana ; Zafar, Faisal ; Rana, Nuzhat ; Kandaswamy, Krishna K. ; Hertecant, Jozef ; Bauer, Peter ; AlMuhaizea, Mohammed A. ; Salih, Mustafa A. ; Aldosary, Mazhor ; Almass, Rawan ; Al-Quait, Laila ; Qubbaj, Wafa ; Coskun, Serdar ; Alahmadi, Khaled O. ; Hamad, Muddathir H. A. ; Alwadaee, Salem ; Awartani, Khalid ; Dababo, Anas M. ; Almohanna, Futwan ; Colak, Dilek ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Gunel, Murat ; Ercan-Sencicek, A. Gulhan ; Passi, Gouri Rao ; Cheema, Huma Arshad ; Efthymiou, Stephanie ; Houlden, Henry ; Bertoli-Avella, Aida M. ; Brooks, Alice S. ; Retterer, Kyle ; Maroofian, Reza ; Kaya, Namik ; van Ham, Tjakko J. ; Barakat, Tahsin StefanActa neuropathologica, 2020-03, Vol.139 (3), p.415-442 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Splicing mutations in human genetic disorders: examples, detection, and confirmationAnna, Abramowicz ; Monika, GosJournal of applied genetics, 2018-08, Vol.59 (3), p.253-268 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Investigative analysis of different mutation on diversity-driven multi-parent evolutionary algorithm and its application in area coverage optimization of WSNChauhan, Sumika ; Singh, Manmohan ; Aggarwal, Ashwani KumarSoft computing (Berlin, Germany), 2023-07, Vol.27 (14), p.9565-9591 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenitaBallew, Bari J. ; Yeager, Meredith ; Jacobs, Kevin ; Giri, Neelam ; Boland, Joseph ; Burdett, Laurie ; Alter, Blanche P. ; Savage, Sharon A.Human genetics, 2013-04, Vol.132 (4), p.473-480 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Myeloproliferative NeoplasienSchmitt, Karla ; Isfort, Susanne ; Koschmieder, Steffen ; Brümmendorf, Tim HBest practice onkologie, 2015-09, Vol.10 (5), p.46-57 [Periódico revisado por pares]Heidelberg: Springer Nature B.VTexto completo disponível |