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Author/Creator Reitano, Santina

1. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Issue 12 (11th October 2013)

Authors:
Schuurs-Hoeijmakers, Janneke H M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; van de Vondervoort, Ilse I G M; van Bon, Bregje W M; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla,...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
802
Record Type:
Journal Article
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2. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Issue 8 (27th June 2013)

Authors:
Curry, Cynthia J.; Rosenfeld, Jill A.; Grant, Erica; Gripp, Karen W.; Anderson, Carol; Aylsworth, Arthur S.; Saad, Taha Ben; Chizhikov, Victor V.; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, ...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 8(2013:Aug.)
Page Start:
1833
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗