✦ LIBER ✦

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

✍ Scribed by Antonietta Coppola; Pasquale Striano; Stefania Gimelli; Clotilde Ciampa; Lia Santulli; Ferdinando Caranci; Orsetta Zuffardi; Giorgio Gimelli; Salvatore Striano; Federico Zara

Book ID: 113498741
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 780 KB
Volume: 32
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2009.01.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rhombencephalosynapsis in a patient with

Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms

✍ Pasquale Striano; Giovanni Morana; Marianna Pezzella; Tommaso Bellini; Andrea Ro 📂 Article 📅 2010 🏛 Springer Milan 🌐 English ⚖ 201 KB

De novo Xq11.11 microdeletion including

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

✍ Gaetan Lesca; Marianne Till; Audrey Labalme; Dominique Vallee; Catherine Hugonen 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 688 KB

Duplication of chromosome region (16)(p1

Duplication of chromosome region (16)(p11.2 ? p12.1) in a mother and daughter with mild mental retardation

✍ Engelen, J.J.M. ;de Die-Smulders, C.E.M. ;Dirckx, R. ;Verhoeven, W.M.A. ;Tuinier 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB 👁 2 views

Duplication of MAOA, MAOB, and NDP in a

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

✍ Klitten, Laura L; Møller, Rikke S; Ravn, Kirstine; Hjalgrim, Helle; Tommerup, Ni 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 140 KB

A novel 5p15.33-14.1 deletion and 4q34.2

A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay

✍ CAO, QINYING; PENG, YUANYUAN; GE, JUN; ZHANG, YANHUA; ZHU, JUNZHEN; ZHAO, LIJUAN 📂 Article 📅 2014 🏛 Indian Academy of Sciences 🌐 English ⚖ 187 KB

A de novo 12q13.11 microdeletion in a pa

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

✍ S. Gimelli; P. Makrythanasis; C. Stouder; S.E. Antonarakis; A. Bottani; F. Béna 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 536 KB