Ophthalmic Genetics,volume 31,issue 4  (12-2014)

Period of time： 2014年4期

Publisher： Informa Healthcare

Founded in： 1981

Total resources： 61

ISSN： 1381-6810

Subject： R77 Ophthalmology

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Ophthalmic Genetics,volume 31,issue 4

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Assessing mitochondrial DNA nucleotide changes in spontaneous optic neuropathies

By Bosley Thomas M.,Abu-Amero Khaled K. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 163-172

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Endothelial Nitric Oxide Synthase genotypes in the etiology of retinopathy of prematurity in premature infants

By Yanamandra Krishna,Napper Dawn,Pramanik Arun,Bocchini Joseph A.,Dhanireddy Ramasubbareddy in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 173-177

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Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3

By Mukkamala Krishna,Gentile Ronald C.,Willner Judith,Tsang Stephen in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 178-182

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Historical evolution in the understanding of Stargardt macular dystrophy

By Fishman Gerald Allen in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 183-189

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106Ruthenium brachytherapy for ciliary recurrence with supraciliary effusion in retinoblastoma

By Chhablani Jay,Romanzo Antonio,Balmer Aubin,Pica Alessia,Gaillard Marie-Claire,Cozza Raffaele,Moeckli Raphaël,Munier Francis L. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 190-192

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A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

By Barry Gerard P.,Ny Betina Mucha-Le,Zackai Elaine H.,Grunwald Lili,Forbes Brian J. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 193-195

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Reduced frequency of known mutations in a cohort of LHON patients from India

By Sundaresan Periasamy,Kumar S. Mahesh,Thompson Stewart,Fingert John H. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 196-199

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Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations

By Ksantini Mohamed,Sénéchal Audrey,Bocquet Béatrice,Meunier Isabelle,Brabet Philippe,Hamel Christian P in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 200-204

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A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

By Aliferis K.,Marsal C.,Pelletier V.,Doray B.,Weiss M.M.,Tops C.M.J.,Speeg-Schatz C.,Lesnik S.A.J.,Dollfus H. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 205-208

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Astrocytic Hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2

By Sachdeva Reecha,Rothner David A.,Traboulsi Elias I.,Hayden Brandy C.,Rychwalski Paul J. in (2010)

Ophthalmic Genetics,volume 31,issue 4 , Vol. 31, Iss. 4, 2010-12 , pp. 209-214

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