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Page 1
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J. Carrasco E, et al. Among authors: tizzano ef. J Med Genet. 2023 Jul;60(7):685-691. doi: 10.1136/jmg-2022-108929. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446584
DMD carrier detection in a female with mosaic Turner's syndrome.
Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T, Gallano P. Baiget M, et al. J Med Genet. 1991 Mar;28(3):209-10. doi: 10.1136/jmg.28.3.209. J Med Genet. 1991. PMID: 2051460 Free PMC article. No abstract available.
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H. Antonarakis SE, et al. Among authors: tizzano ef. Blood. 1995 Sep 15;86(6):2206-12. Blood. 1995. PMID: 7662970 Free article.
Intron 22 inversions and haemophilia.
Tizzano EF, Altisent C, Tusell J, Domènech M, Baiget M. Tizzano EF, et al. Lancet. 1994 Mar 26;343(8900):792. Lancet. 1994. PMID: 7907746 No abstract available.
174 results