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Luana Conte, Emanuele Rizzo, Tiziana Grassi, Francesco Bagordo, Elisabetta De Matteis and Giorgio De Nunzio
Pedigree charts remain essential in oncological genetic counseling for identifying individuals with an increased risk of developing hereditary tumors. However, this valuable data source often remains confined to paper files, going unused. We propose a co...
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Arnethea L. Sutton, Alesha Henderson, Alejandra Hurtado-de-Mendoza, Erin Tanner, Mishaal Khan, John Quillin and Vanessa B. Sheppard
Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic ...
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Hanns Moshammer, Stana Simic and Daniela Haluza
Ultraviolet (UV) radiation has affected life at least since the first life forms moved out of the seas and crawled onto the land. Therefore, one might assume that evolution has adapted to natural UV radiation. However, evolution is mostly concerned with ...
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Adriana María Gil Zapata, Adriana Castillo Pico, Leonor Gusmão, António Amorim, Fernando Rodríguez Sanabria
Pág. 18 - 21
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural dis...
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Anne M. Traas, Margret Casal, Mark Haskins and Paula Henthorn
Pág. 599 - 605
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