Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Al-Hemidan A"'
Publikováno v:
Annals of Saudi Medicine, Vol 26, Iss 3, Pp 220-223 (2006)
Externí odkaz:
https://doaj.org/article/77846d24eec04ba0be50abfcaf0b22dd
Autor:
Al-Muhsen, Saleh, Al-Hemidan, Amal, Al-Shehri, Amer, Al-Harbi, Abdullah, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Mousa, Hamoud, Al-Dhekri, Hasan, Arnaout, Rand, Al-Mohsen, Ibrahim, Alsmadi, Osama
Publikováno v:
In Journal of AAPOS 2009 13(4):396-399
Publikováno v:
In American Journal of Ophthalmology 2008 146(6):845-850
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
Autor:
M. Hashem, Mohammed Al-Owain, Arman Khan, A. Al‐Aqeel, Wesam Kurdi, M.A. Aldahmesh, Zuhair Rahbeeni, Hamad Al-Zaidan, Ranad Shaheen, Nisha Patel, Nicola G. Ghazi, Firdous Abdulwahab, S.S. Alzahrani, Eissa Faqeih, Niema Ibrahim, Hisham Alkuraya, Amal Al-Hemidan, M. Abouelhoda, Dorota Monies, Fowzan S. Alkuraya, Tawfeg Ben-Omran, M.Z. Seidahmed, S.R. Nowailaty
Publikováno v:
Clinical Genetics. 94:554-563
Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dba89ec7fb4bc2f041fb27aff8a09790
https://doi.org/10.1111/cge.13426
https://doi.org/10.1111/cge.13426
Publikováno v:
British Journal of Ophthalmology. 101:1234-1237
Purpose The aim of this study is to evaluate the efficacy of topical cysteamine 0.55% eye drops in the treatment of corneal cystine crystal deposits in patients with nephropathic cystinosis. Methods Thirty-two patients with nephropathic cystinosis we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466433e16f693d8c711993ec79782a5d
https://doi.org/10.1136/bjophthalmol-2016-309278
https://doi.org/10.1136/bjophthalmol-2016-309278
Autor:
Amal I. Al-Hemidan
Publikováno v:
Saudi Medical Journal, Vol 40, Iss 7, Pp 738-739 (2019)
To the Editor The study is based on a questionnaire that has its limitations as mentioned by Algethami et al,[1][1] therefore the results should be interpreted cautiously. Here are some points to be mentioned: 1) Conclusions based on questionnaire ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b4d5be55128b2c64a3bd99c3b805cbd
https://doi.org/10.15537/smj.2019.7.24261
https://doi.org/10.15537/smj.2019.7.24261
Autor:
Ola Khalifa, Khushnooda Ramzan, Nadia Sakati, M. Al Owain, Eissa Faqeih, A. Al Hemidan, Faiqa Imtiaz, Rabab Allam, Ameera Balobaid, Gheid Abuharb
Publikováno v:
American Journal of Medical Genetics Part A. 164:2601-2606
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158f63bbd9a316e512f082218e3d0887
https://doi.org/10.1002/ajmg.a.36681
https://doi.org/10.1002/ajmg.a.36681
Publikováno v:
Ophthalmic Genetics. Sep2006, Vol. 27 Issue 3, p83-87. 4p. 3 Black and White Photographs, 2 Diagrams, 1 Chart.
Autor:
Hamoud Al-Mousa, Amer Al-Shehri, Abdulaziz Al-Ghonaium, Osama Alsmadi, Saleh Al-Muhsen, Rand Arnaout, Hasan Al-Dhekri, Ibrahim Al-Mohsen, Bandar Al-Saud, Amal Al-Hemidan, Abdullah Alharbi
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 13:396-399
Introduction Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by a genetic defect in the NADPH oxidase complex of phagocytic cells. Recent reports indicate that chorioretinal lesions are more common than previously sus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83287988b05041837fce668d00011080
https://doi.org/10.1016/j.jaapos.2009.05.011
https://doi.org/10.1016/j.jaapos.2009.05.011
Publikováno v:
Ophthalmic Genetics. Mar1999, Vol. 20 Issue 1, p45-51. 7p. 5 Black and White Photographs.