Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1

por Burn, Sabrina C., Swift, Kali, Palmquist, Maria
Publicado 2018

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome

por Salih, Mustafa A., Seidahmed, Mohammed Z., El Khashab, Heba Y., Hamad, Muddathir H. A., Bosley, Thomas M., Burn, Sabrina, Myers, Angela, Landsverk, Megan L., Crotwell, Patricia L., Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C.
Publicado 2015

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

por Masuho, Ikuo, Fang, Mingyan, Geng, Chunyu, Zhang, Jianguo, Jiang, Hui, Özgul, Riza Köksal, Yılmaz, Didem Yücel, Yalnızoğlu, Dilek, Yüksel, Deniz, Yarrow, Anna, Myers, Angela, Burn, Sabrina C., Crotwell, Patricia L., Padilla-Lopez, Sergio, Dursun, Ali, Martemyanov, Kirill A., Kruer, Michael C.
Publicado 2016