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1دورية أكاديمية
المؤلفون: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D'Argenio, Valeria
المساهمون: Veneruso, Iolanda, Ranieri, Annaluisa, Falcone, Noemi, Tripodi, Lorella, Scarano, Carmela, La Monica, Ilaria, Pastore, Lucio, Lombardo, Barbara, D'Argenio, Valeria
مصطلحات موضوعية: NGS, aCGH, autism spectrum disorder, expanded carrier screening, prenatal testing, whole-exome sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001057299400001; volume:14; issue:8; firstpage:1651; journal:GENES; https://hdl.handle.net/11588/943902Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168722513
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2دورية أكاديمية
المساهمون: Veneruso, Iolanda, Di Resta, Chiara, Tomaiuolo, Rossella, D'Argenio, Valeria
مصطلحات موضوعية: expanded carrier screening, genetic carrier screening, genetic counselling, next generation sequencing, recessive genetic disease
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000774161800001; volume:58; issue:3; firstpage:455; journal:MEDICINA; https://hdl.handle.net/11588/932031Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127515560
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3دورية أكاديمية
المؤلفون: MASTANTUONI, ENRICA, Saccone G, Al-Kouatly HB, Paternoster M, D'Alessandro, Pietro, Arduino B, CARBONE, LUIGI, Esposito G, Raffone A, DE VIVO, VALENTINO, Maruotti GM, Berghella V, Zullo F.
المساهمون: Mastantuoni, Enrica, Saccone, G, Al-Kouatly, Hb, Paternoster, M, D'Alessandro, Pietro, Giuliani, Arduino, Carbone, Luigi, Esposito, G, Raffone, A, DE VIVO, Valentino, Maruotti, Gm, Berghella, V, Zullo, F.
مصطلحات موضوعية: Expanded carrier screening, Preconception, Prenatal genetic screening, Recessive disease, Reproductive Medicine, Obstetrics and Gynecology
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000452946000009; volume:230; firstpage:41; lastpage:54; numberofpages:14; journal:EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY; http://hdl.handle.net/11588/723864Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053454694; www.elsevier.com/locate/ejogrb
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4دورية أكاديمية
المؤلفون: De Bonis M., Minucci A., Scaglione G. L., De Paolis E., Zannoni G., Scambia G., Capoluongo
المساهمون: De Bonis, M., Minucci, A., Scaglione, G. L., De Paolis, E., Zannoni, G., Scambia, G., Capoluongo, Ettore Domenico
مصطلحات موضوعية: BRCA1/2 gene, Capillary electrophoresi, Italian founder BRCA1/2 mutation, BRCA1 Protein, Electrophoresis, Capillary, Feasibility Studie, Female, Genetic Carrier Screening, Genotyping Technique, Germ-Line Mutation, Human, Italy, Loss of Heterozygosity, Ovarian Neoplasm, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Founder Effect, Genetic Predisposition to Disease
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000455137200004; volume:18; issue:1; firstpage:29; lastpage:35; numberofpages:7; journal:FAMILIAL CANCER; http://hdl.handle.net/11588/779609Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048933701; http://www.springerlink.com/content/1389-9600Test
الإتاحة: https://doi.org/10.1007/s10689-018-0094-2Test
http://hdl.handle.net/11588/779609Test
http://www.springerlink.com/content/1389-9600Test
