Eyaid W - Search Results

1

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Leitch CC, et al. Among authors: eyaid w. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327255

2

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.

Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Boyadjiev SA, et al. Among authors: eyaid w. Nat Genet. 2006 Oct;38(10):1192-7. doi: 10.1038/ng1876. Epub 2006 Sep 17. Nat Genet. 2006. PMID: 16980979

3

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. McIntosh I, et al. Among authors: eyaid w. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

4

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.

Eyaid WM, Clough MV, Root H, Scott KM, McCormick MK, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. Eyaid WM, et al. Hum Genet. 1998 Oct;103(4):525-6. doi: 10.1007/s004390050862. Hum Genet. 1998. PMID: 9856502 Free article. No abstract available.

5

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. Boyadjiev SA, et al. Among authors: eyaid w. Hum Genet. 2003 Jul;113(1):1-9. doi: 10.1007/s00439-003-0932-6. Epub 2003 Apr 3. Hum Genet. 2003. PMID: 12677423

6

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS. Eyaid W, et al. J Inherit Metab Dis. 2013 Nov;36(6):997-1004. doi: 10.1007/s10545-012-9577-8. Epub 2013 Jan 12. J Inherit Metab Dis. 2013. PMID: 23315216

7

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: eyaid w. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.

8

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

Obaid A, Nashabat M, Alfadhel M, Alasmari A, Al Mutairi F, Alswaid A, Faqeih E, Mushiba A, Albanyan M, Alalwan M, Marsden D, Eyaid W. Obaid A, et al. Among authors: eyaid w. JIMD Rep. 2018;40:47-53. doi: 10.1007/8904_2017_58. Epub 2017 Oct 5. JIMD Rep. 2018. PMID: 28980192 Free PMC article.

9

A new association between CDK5RAP2 microcephaly and congenital cataracts.

Alfares A, Alhufayti I, Alsubaie L, Alowain M, Almass R, Alfadhel M, Kaya N, Eyaid W. Alfares A, et al. Among authors: eyaid w. Ann Hum Genet. 2018 May;82(3):165-170. doi: 10.1111/ahg.12232. Epub 2017 Dec 22. Ann Hum Genet. 2018. PMID: 29271474

10

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: eyaid w. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237

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