Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Sana Al Zuhaibi"'
Publikováno v:
Oman Journal of Ophthalmology, Vol 15, Iss 3, Pp 274-278 (2022)
AIM: The aim of this study is to determine the outcome of accommodative esotropia (ET) and influencing factors in young Omani children. SUBJECTS AND METHODS: In this retrospective cohort, children diagnosed with accommodative ET who had followed up i
Externí odkaz:
https://doaj.org/article/2362180d464c42c59e15e494bf9dfec9
Autor:
Mohamed Al-Abri, Ahmed Al-Hinai, Sana Al Zuhaibi, Anuradha Ganesh, Alyaqdhan Al Ghafri, Khalid Al-Thihli
Publikováno v:
Oman Journal of Ophthalmology, Vol 12, Iss 1, Pp 37-41 (2019)
Best vitelliform macular dystrophy (VMD) is an autosomal dominant macular dystrophy caused by heterozygous mutations in the bestrophin1 gene. Patients with this condition typically have an abnormal electrooculogram. We report a case of a 16-year-old
Externí odkaz:
https://doaj.org/article/33d1569fd4aa4dce8b86cd5a88ac57d6
Publikováno v:
Oman Journal of Ophthalmology, Vol 10, Iss 2, Pp 61-62 (2017)
Externí odkaz:
https://doaj.org/article/e986ba8def244d4bbee7584fb6a65df5
Autor:
Andreas R. Janecke, Lukas A. Huber, Roberto Adachi, Valeria Strauß, Anuradha Ganesh, Siham Al Sinani, Martha P. Schatz, Roger Janz, Badr AlSaleem, Martin Walter Laass, Majid Alfadhel, Sumanth Punuru, Elizabeth Sanchez, Xiaoqin Liu, Naveen Mittal, Fowzan S. Alkuraya, Ujwala S. Saboo, Rüdiger Adam, Sana Al Zuhaibi, Klaus Rohrschneider, Fathiya Al Murshedi, Thomas Müller, Ruth Heidelberger, Johanna C. Escher, Arne Viestenz
Publikováno v:
Human Genetics, 140(8), 1143-1156. Springer-Verlag
Human Genetics
Human Genetics
Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61dc5a4535447fa78f5680c9aee003e4
http://www.scopus.com/inward/record.url?scp=85105860540&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85105860540&partnerID=8YFLogxK
Autor:
Yasser Wali, Sana Al-Zuhaibi, Anuradha Ganesh, Ahlam Al-Hamhami, Sameer Raniga S, Abdullah Al-Mujaini, Maha Mameesh
Publikováno v:
Acta Scientific Ophthalmology. 3:40-44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d359c22716ddf4940baa31630e9faf28
https://doi.org/10.31080/asop.2020.03.0161
https://doi.org/10.31080/asop.2020.03.0161
Autor:
Selma L. van Esveld, Richard J. Rodenburg, Fathiya Al‐Murshedi, Eiman Al‐Ajmi, Sana Al‐Zuhaibi, Martijn A. Huynen, Johannes N. Spelbrink
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 2, pp. 292-307
Journal of Inherited Metabolic Disease, 45, 292-307
Journal of Inherited Metabolic Disease, 45, 292-307
Contains fulltext : 248221.pdf (Publisher’s version ) (Open Access) SUPV3L1 encodes a helicase that is mainly localized in the mitochondria. It has been shown in vitro to possess both double-stranded RNA and DNA unwinding activity that is ATP-depen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ecc4694517480ae17f48d99773ff080
https://repository.ubn.ru.nl/handle/2066/248221
https://repository.ubn.ru.nl/handle/2066/248221
Autor:
Maha Mameesh, Sana Al Zuhaibi, Beena Harikrishna, Sami Al Kalbani, Patrick Scott, Khalid Al Thihli, Anuradha Ganesh
Publikováno v:
Ophthalmic Genetics. 38:544-548
To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family.Biallelic mutations in the MFRP gene (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fed22f7185f06f5a3144917ce6f8dbd
https://doi.org/10.1080/13816810.2017.1323340
https://doi.org/10.1080/13816810.2017.1323340
Publikováno v:
Oman Journal of Ophthalmology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::edb5dc1fe6444d2f772471250598c89c
https://pubmed.ncbi.nlm.nih.gov/32792810
https://pubmed.ncbi.nlm.nih.gov/32792810
Autor:
Raghad Abdwani, Sana Al-Zuhaibi, Ibrahim Al Zakwani, Mahmoud Fathalla, Anuradha Ganesh, Amna Al-Futaisi, Roshan Koul, Hashem Javad
Publikováno v:
Scopus-Elsevier
Idiopathic intracranial hypertension (IIH) is a relatively rare disease in children. It is defined as raised intracranial pressure in the absence of clinical, laboratory or radiological evidence of an intracranial space occupying lesion. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d8d108584a62efea698342b70b7d78b
https://doi.org/10.1055/s-0035-1557427
https://doi.org/10.1055/s-0035-1557427
Publikováno v:
The Eye in Pediatric Systemic Disease ISBN: 9783319183886
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::846b057164ab3f1974914d3c3faed3e0
https://doi.org/10.1007/978-3-319-18389-3_13
https://doi.org/10.1007/978-3-319-18389-3_13