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oculocutaneous albinism type V相关文献:
Refractive development in individuals with ocular and oculocutaneous albinism.
Verkicharla P, Thakur S, Kammari P, Dhakal R, Das AV.
Int Ophthalmol. 2022 Jul;42(7):2007-2015. doi: 10.1007/s10792-021-02165-6. Epub 2022 May 19.
PMID:35587842
Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).
van Dorp DB.
Clin Genet. 1987 Apr;31(4):228-42. doi: 10.1111/j.1399-0004.1987.tb02801.x.
PMID:3109790
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH, Korobelnik JF, Delyfer MN, Michaud V, Arveiler B, Lasseaux E, Gattoussi S, Rougier MB, Trin K, Morice-Picard F, Ghomashchi N, Coste V.
Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):26. doi: 10.1167/iovs.64.12.26.
PMID:37707835
Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8.
Rateaux M, Hadj-Rabia S, Barrois R, Zambrowski O, Michaud V, Moreno-Artero E, Bremond-Gignac D, Javerzat S, Robert MP.
Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):44. doi: 10.1167/iovs.66.2.44.
PMID:39951296
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
Reissmann M, Ludwig A.
Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):576-86. doi: 10.1016/j.semcdb.2013.03.014. Epub 2013 Apr 9.
PMID:23583561
Altered Functional Responses of the Retina in B6 Albino Tyrc/c Mice.
Chotard V, Trapani F, Glaziou G, Sermet BS, Yger P, Marre O, Rebsam A.
Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):39. doi: 10.1167/iovs.65.10.39.
PMID:39189994
Co-option of Lysosomal Machinery for Sponge Biosilicification.
Rangarajan-Paul M, Nichols SA, Tresguerres M.
bioRxiv [Preprint]. 2026 Apr 29:2026.01.19.700231. doi: 10.64898/2026.01.19.700231.
PMID:42094339
Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
Anno S, Abe T, Yamamoto T.
Int J Biol Sci. 2008 Mar 31;4(2):81-6. doi: 10.7150/ijbs.4.81.
PMID:18392143
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.
Wilson SM, Yip R, Swing DA, O'Sullivan TN, Zhang Y, Novak EK, Swank RT, Russell LB, Copeland NG, Jenkins NA.
Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):7933-8. doi: 10.1073/pnas.140212797.
PMID:10859366
Screening of Clinical Data of Patients with Abnormal Head Posture and Investigation of Abnormal Head Posture Change After Treatment.
Erduran B, Niyaz Şahin L.
Turk J Ophthalmol. 2025 Feb 27;55(1):11-15. doi: 10.4274/tjo.galenos.2024.71163.
PMID:40013480
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