Abdulrahman Alswaid

Abdulrahman Alswaid

King Saud bin Abdulaziz University for Health Sciences - Riyadh / Saudi Arabia
Others
AD Scientific Index ID: 514835
person_outline Abdulrahman Alswaid's MOST POPULAR ARTICLES
1-) Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfectaHE Christiansen, U Schwarze, SM Pyott, A AlSwaid, M Al Balwi, ...The American Journal of Human Genetics 86 (3), 389-398, 20103452010
2-) ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndromeN Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ...The American Journal of Human Genetics 75 (5), 801-806, 20042982004
3-) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR Bachmann-Gagescu, JC Dempsey, IG Phelps, BJ O\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'roak, DM Knutzen, ...Journal of medical genetics 52 (8), 514-522, 20152642015
4-) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290NT Gorden, HH Arts, MA Parisi, KLM Coene, SJF Letteboer, ...The American Journal of Human Genetics 83 (5), 559-571, 20082762008
5-) Protein-truncating mutations in ASPM cause variable reduction in brain sizeJ Bond, S Scott, DJ Hampshire, K Springell, P Corry, MJ Abramowicz, ...The American Journal of Human Genetics 73 (5), 1170-1177, 20032302003