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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2006 2
2008 2
2009 1
2010 2
2011 4
2012 3
2013 6
2014 4
2015 4
2016 4
2017 8
2018 5
2019 7
2020 12
2021 11
2022 6
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Search Results

74 results
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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: zein wm. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: zein wm. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Among authors: zein wm. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
The Approach to the Newborn With Bilateral Leukocoria.
Chan RVP, Gurland J, Zein WM, DeRespinis P. Chan RVP, et al. Among authors: zein wm. J Pediatr Ophthalmol Strabismus. 2020 Mar 1;57(2):72-75. doi: 10.3928/01913913-20190919-01. J Pediatr Ophthalmol Strabismus. 2020. PMID: 32203587 No abstract available.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Daich Varela M, et al. Among authors: zein wm. Ophthalmology. 2020 Dec;127(12):1772-1774. doi: 10.1016/j.ophtha.2020.05.028. Epub 2020 May 17. Ophthalmology. 2020. PMID: 32434002 Free PMC article.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. da Palma MM, et al. Among authors: zein wm. Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):27. doi: 10.1167/iovs.62.7.27. Invest Ophthalmol Vis Sci. 2021. PMID: 34185059 Free PMC article.
Defining the clinical phenotype of Saul-Wilson syndrome.
Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Ferreira CR, et al. Among authors: zein wm. Genet Med. 2020 May;22(5):857-866. doi: 10.1038/s41436-019-0737-1. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949312 Free PMC article.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG. Bharucha-Goebel DX, et al. Among authors: zein wm. Brain. 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. Brain. 2021. PMID: 34114613 Free PMC article.
74 results