Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
Al-Zahrani, Jawaher, Al-Dosari, Naji, Abudheim, Nada, Alshidi, Tarfa A, Colak, Dilek, Al-Habit, Ola, Al-Odaib, Ali, Sakati, Nadia, Meyer, Brian, Ozand, Pinar T, Kaya, Namik
Published in Molecular cytogenetics (02.04.2011)
Published in Molecular cytogenetics (02.04.2011)
Get full text
Journal Article
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways
Colak, Dilek, Al-Dhalaan, Hesham, Nester, Michael, AlBakheet, AlBandary, Al-Younes, Banan, Al-Hassnan, Zohair, Al-Dosari, Mohammad, Chedrawi, Aziza, Al-Owain, Muhammad, AbuDheim, Nada, Al-Alwan, Laila, Al-Odaib, Ali, Ozand, Pinar, Inan, Mehmet Sait, Kaya, Namik
Published in Genomics (San Diego, Calif.) (2011)
Published in Genomics (San Diego, Calif.) (2011)
Get full text
Journal Article
GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening
Kaya, Namik, Owain, Mohammad Al, AbuDheim, Nada, Zahrani, Jawaher Al, Colak, Dilek, Sayed, Moeen Al, Milanlioglu, Aysel, Ozand, Pinar T., Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.06.2011)
Published in American journal of medical genetics. Part A (01.06.2011)
Get full text
Journal Article