11573/1663103 - 2023 -
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'angelantonio, Daniela; Grammatico, Paola - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF HUMAN GENETICS (-NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON, ENGLAND, N1 9XW
-S Karger AG:Allschwilerstrasse 10, CH-4009 Basel Switzerland:011 41 61 3061111, EMAIL: orders@karger.ch, INTERNET: http://www.karger.com, Fax: 011 41 61 3061234) pp. - - issn: 1018-4813 - wos: WOS:000900187200002 (2) - scopus: 2-s2.0-85144202660 (4)
11573/1663104 - 2022 -
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2266- - issn: 2073-4425 - wos: WOS:000901353600001 (0) - scopus: 2-s2.0-85144566549 (0)