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Human Genetics
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Volume 138, September 2019, Issue 8-9, Pages 793-1069
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1. Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”
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Tác giả
Nicola Ragge, Patrick Calvas, Nicolas Chassaing.
2. Perspective Topical Collection Through the looking glass: eye anomalies in the age of molecular science
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Tác giả
Patrick Calvas, Elias I. Traboulsi, Nicola Ragge.
3. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
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Tác giả
J. Plaisancié, F. Ceroni, R. Holt, C. Zazo Seco, P. Calvas, N. Chassaing.
4. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia
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Tác giả
Anne Slavotinek.
5. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes
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Linda M. Reis, Elena V. Semina.
6. An update on the genetics of ocular coloboma
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Aisha S. ALSomiry, Cheryl Y. Gregory-Evans, Kevin Gregory-Evans.
7. The genetic architecture of aniridia and Gillespie syndrome
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Hildegard Nikki Hall, Kathleen A. Williamson, David R. FitzPatrick.
8. Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis
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A. S. Ma, J. R. Grigg, R. V. Jamieson.
9. The hedgehog pathway and ocular developmental anomalies
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Florencia Cavodeassi, Sophie Creuzet, Heather C. Etchevers.
10. Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
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B. Nedelec, J.-M. Rozet, L. Fares Taie.
11. Non-coding RNAs in retinal development and function
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Marianthi Karali, Sandro Banfi.
12. Human eye conditions: insights from the fly eye
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Pedro Gaspar, Isabel Almudi, Maria D. S. Nunes, Alistair P. McGregor.
13. Looking to the future of zebrafish as a model to understand the genetic basis of eye disease
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Florencia Cavodeassi, Stephen W. Wilson.
14. Genetics of congenital eye malformations: insights from chick experimental embryology
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Paola Bovolenta, Juan-Ramón Martinez-Morales.
15. Mouse models for microphthalmia, anophthalmia and cataracts
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Jochen Graw.
16. Prospects and modalities for the treatment of genetic ocular anomalies
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Cheryl Y. Gregory-Evans, Xia Wang, Kevin Gregory-Evans.
17. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
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Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing.
18. Congenital glaucoma and CYP1B1: an old story revisited
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Hessa S. Alsaif, Arif O. Khan, Nisha Patel, Hisham Alkuraya, Mais Hashem.
19. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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Tác giả
Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea.
