Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Omamah A. Jiman"'
Autor:
Christopher Campbell, Graeme C.M. Black, Omamah A. Jiman, Jane Ashworth, Sofia Douzgou, Rachel L. Taylor, Eva Lenassi, Forbes D C Manson, Tracy Fletcher, Stephanie Barton, Jamie M Ellingford, Claire Hardcastle, Simon C Ramsden, Jill Clayton Smith, Susmito Biswas
Publikováno v:
Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5
European Journal of Human Genetics
European Journal of Human Genetics
Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dd98c73ac071d9a5d792ad5a994775
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85076856393&partnerID=8YFLogxK
Autor:
Arthur A.M. Wilde, A.Y. Bdier, Zahurul A. Bhuiyan, Sherif E. Ahmed, Omamah A. Jiman, Khalid Dagriri, Saleh Alghamdi, Prashant Verma, Bandar Ali Al-Shehri, Jumana Y. Al-Aama
Publikováno v:
Molecular genetics and genomic medicine, 5(5), 592-601. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol. 5, no. 5, pp. 592-601
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol. 5, no. 5, pp. 592-601
One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the javax.xml.bind.JAXBElement@1ece3341 gene. Bi-allelic mutations in the javax.xml.bind.JA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a815ac3bdbebc2d7a557adb7f72995
https://pure.amc.nl/en/publications/autosomal-recessive-long-qt-syndrome-type-1-in-eight-families-from-saudi-arabia(602da67d-06d5-4d9d-baab-6a69bdfcb4ad).html
https://pure.amc.nl/en/publications/autosomal-recessive-long-qt-syndrome-type-1-in-eight-families-from-saudi-arabia(602da67d-06d5-4d9d-baab-6a69bdfcb4ad).html
Autor:
J. Al-Aata, Zahurul A. Bhuiyan, Jumana Y. Al-Aama, A. A. M. Wilde, Saleh Alghamdi, A.Y. Bdier, A. AlQarawi, N. Al-Aama, Omamah A. Jiman
Publikováno v:
Clinical genetics, 87(1), 74-79. Wiley-Blackwell
We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Six families with at least one JLNS-affected me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bae522e5f21b6d1cf8b9ebe76f45206
https://doi.org/10.1111/cge.12330
https://doi.org/10.1111/cge.12330
