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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13.
Eur J Hum Genet. 2020.
PMID: 31836858
Free PMC article.
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama JY, Al-Ghamdi S, Bdier AY, AlQarawi A, Jiman OA, Al-Aama N, Al-Aata J, Wilde AA, Bhuiyan ZA.
Al-Aama JY, et al. Among authors: jiman oa.
Clin Genet. 2015;87(1):74-9. doi: 10.1111/cge.12330. Epub 2013 Dec 27.
Clin Genet. 2015.
PMID: 24372464
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Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Bdier AY, Al-Ghamdi S, Verma PK, Dagriri K, Alshehri B, Jiman OA, Ahmed SE, Wilde AAM, Bhuiyan ZA, Al-Aama JY.
Bdier AY, et al. Among authors: jiman oa.
Mol Genet Genomic Med. 2017 Jun 21;5(5):592-601. doi: 10.1002/mgg3.305. eCollection 2017 Sep.
Mol Genet Genomic Med. 2017.
PMID: 28944242
Free PMC article.
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