Pubblicazioni

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Mlynarski, Elisabeth E; Sheridan, Molly B; Xie, Michael; Guo, Tingwei; Racedo, Silvia E; McDonald McGinn, Donna M; Gai, Xiaowu; Chow, Eva W. C; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, MaÅgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine SuÃ±er, Damian; Shaikh, Tamim H; Bassett, Anne S; Goldmuntz, Elizabeth; Morrow, Bernice E; Emanuel, Beverly S.

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

2015 - BMC GASTROENTEROLOGY

Kelsen, Judith R; Dawany, Noor; Martinez, Alejandro; Martinez, Alejuandro; Grochowski, Christopher M; Maurer, Kelly; Rappaport, Eric; Piccoli, David A; Baldassano, Robert N; Mamula, Petar; Sullivan, Kathleen E; Devoto, Marcella

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

2015 - EPILEPSY RESEARCH

Dazzo, Emanuela; Santulli, Lia; Posar, Annio; Fattouch, Jinane; Conti, Sara; LodÃ©n van Straaten, Martin; Mijalkovic, Jona; De Bortoli, Marzia; Rosa, Maurizio; Millino, Caterina; Pacchioni, Beniamina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Striano, Salvatore; Striano, Pasquale; Parmeggiani, Antonia; Nobile, Carlo