11573/1684180 - 2023 -
Prenatal screening and diagnostic considerations for 22q11.2 microdeletions Blagowidow, Natalie; Nowakowska, Beata; Schindewolf, Erica; Romana Grati, Francesca; Putotto, Carolina; Breckpot, Jeroen; Swillen, Ann; Blaine Crowley, Terrence; Loo, Joanne C. Y.; Lairson, Lauren A.; Óskarsdóttir, Sólveig; Boot, Erik; Garcia-Minaur, Sixto; Cristina Digilio, Maria; Marino Taussig De Bodonia, Bruno; Coleman, Beverly; Moldenhauer, Julie S.; Bassett, Anne S.; Mcdonald-Mcginn, Donna M. - 01a Articolo in rivista
paper: GENES (Basel : Molecular Diversity Preservation International) pp. 160- - issn: 2073-4425 - wos: WOS:000915190100001 (11) - scopus: 2-s2.0-85146758210 (14)
11573/1702818 - 2023 -
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age Freud, Lindsay R.; Galloway, Stephanie; Crowley, T. Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, J. William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; Mcdonald-Mcginn, Donna M. - 01a Articolo in rivista
paper: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (St. Louis: C.V. Mosby Co.
Latest publisher: New York: Elsevier) pp. - - issn: 0002-9378 - wos: WOS:001203611200001 (2) - scopus: 2-s2.0-85174044190 (2)
11573/1684078 - 2023 -
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome Óskarsdóttir, Sólveig; Boot, Erik; Crowley, Terrence Blaine; Loo, Joanne C Y; Arganbright, Jill M; Armando, Marco; Baylis, Adriane L; Breetvelt, Elemi J; Castelein, René M; Chadehumbe, Madeline; Cielo, Christopher M; De Reuver, Steven; Eliez, Stephan; Fiksinski, Ania M; Forbes, Brian J; Gallagher, Emily; Hopkins, Sarah E; Jackson, Oksana A; Levitz-Katz, Lorraine; Klingberg, Gunilla; Lambert, Michele P; Marino, Bruno; Mascarenhas, Maria R; Moldenhauer, Julie; Moss, Edward M; Nowakowska, Beata Anna; Orchanian-Cheff, Ani; Putotto, Carolina; Repetto, Gabriela M; Schindewolf, Erica; Schneider, Maude; Solot, Cynthia B; Sullivan, Kathleen E; Swillen, Ann; Unolt, Marta; Van Batavia, Jason P; Vingerhoets, Claudia; Vorstman, Jacob; Bassett, Anne S; Mcdonald-Mcginn, Donna M - 01a Articolo in rivista
paper: GENETICS IN MEDICINE (New York: Elsevier Inc.
Baltimore MD: Lippincott Williams & Wilkins) pp. 100338- - issn: 1530-0366 - wos: WOS:001029315800001 (25) - scopus: 2-s2.0-85146771243 (27)