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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.
Cell Rep. 2015.
PMID: 25558065
Free article.
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS.
Patel N, et al.
Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10.
Genet Med. 2016.
PMID: 26355662
Free article.
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Monies DM, Al-Hindi HN, Al-Muhaizea MA, Jaroudi DJ, Al-Younes B, Naim EA, Wakil SM, Meyer BF, Bohlega S.
Monies DM, et al. Among authors: naim ea.
Neuromuscul Disord. 2014 Apr;24(4):353-9. doi: 10.1016/j.nmd.2013.12.010. Epub 2014 Jan 4.
Neuromuscul Disord. 2014.
PMID: 24461433
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Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA, Al-Younes B, Shinwari J, Al-Mohanna FA, Meyer BF, Al-Mayouf S.
Wakil SM, et al. Among authors: naim ea.
Arthritis Rheumatol. 2015 Jan;67(1):288-95. doi: 10.1002/art.38877.
Arthritis Rheumatol. 2015.
PMID: 25220867
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Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
Monies DM, Rahbeeni Z, Abouelhoda M, Naim EA, Al-Younes B, Meyer BF, Al-Mehaidib A.
Monies DM, et al. Among authors: naim ea.
J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):352-6. doi: 10.1097/MPG.0000000000000627.
J Pediatr Gastroenterol Nutr. 2015.
PMID: 25714577
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Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
Shtir C, Aldahmesh MA, Al-Dahmash S, Abboud E, Alkuraya H, Abouammoh MA, Nowailaty SR, Al-Thubaiti G, Naim EA, ALYounes B, Binhumaid FS, ALOtaibi AB, Altamimi AS, Alamer FH, Hashem M, Abouelhoda M, Monies D, Alkuraya FS.
Shtir C, et al. Among authors: naim ea.
Hum Genet. 2016 Feb;135(2):193-200. doi: 10.1007/s00439-015-1624-8. Epub 2015 Dec 22.
Hum Genet. 2016.
PMID: 26693933
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Saudi Mendeliome Group.
Saudi Mendeliome Group.
Genome Biol. 2015 Jun 26;16(1):134. doi: 10.1186/s13059-015-0693-2.
Genome Biol. 2015.
PMID: 26112015
Free PMC article.
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