𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular characterization of Joubert syndrome in Saudi Arabia

✍ Scribed by Anas M. Alazami; Muneera J. Alshammari; Mustafa A. Salih; Fatema Alzahrani; Hadia Hijazi; Mohammed Z. Seidahmed; Leen Abu Safieh; Mazhor Aldosary; Arif O. Khan; Fowzan S. Alkuraya


Book ID
112099795
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
357 KB
Volume
33
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Sheehan’s syndrome in Saudi Arabia
✍ S. Banzal; E.A. Ayoola; S. Banzal πŸ“‚ Article πŸ“… 1999 πŸ› Elsevier Science 🌐 English βš– 42 KB
Crigler-Najjar syndrome in Saudi Arabia
✍ Nazer, Hisham; Al-Mehaidib, Ali; Shabib, Souheil; Ali, M. Ashraf πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

Crigler-Najjar (CN) syndrome is a congenital familial nonhemolytic jaundice associated with high level of unconjugated bilirubin due to deficient uridine diphosphate glucuronosyltransferase (UDPG-T) activity in the liver. The aim of this report is to emphasize the need for increased awareness of thi

Clinical and molecular analysis in Joube
✍ Pellegrino, Joan E.; Lensch, M. William; Muenke, Maxmilian; Chance, Phillip F. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained a cohort of 50 patients with the Joubert syndrome