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Volume 21; Issue 2
Main
Ophthalmic Genetics
Volume 21; Issue 2
Ophthalmic Genetics
Volume 21; Issue 2
1
Mutations in the third exon of the MYOC gene in Spanish patients with primary open angle glaucoma
Vázquez, M. Cabana
,
Herrero, M.V. Olmedo
,
Bastús, M. Baiget
,
Pérez, D. Valverde
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 77 KB
Your tags:
english, 2000
2
Visual phenotype in patients with Arg41Gln and Ala196+1bp mutations in the CRX gene
Tzekov, Radouil T.
,
Sohocki, Melanie M.
,
Daiger, Stephen P.
,
Birch, David G.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2000
3
Karl Lisch, MD: Remembered July 24, 1907 - February 5, 1999
Singh, Arun D.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 268 KB
Your tags:
english, 2000
4
An unusual central retinal dystrophy associated with ichthyosis vulgaris
Saatci, A. Osman
,
Özbek, Zeynep
,
Köse, Süheyla
,
Durak, Ismet
,
Kavukçu, Salih
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 313 KB
Your tags:
english, 2000
5
Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability – a new syndrome?
Waters, F.M.
,
Lloyd, I.C.
,
Clayton-Smith, J.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 211 KB
Your tags:
english, 2000
6
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)
Beneyto, Magdalena
,
Cuevas, José M.
,
Millán, José M.
,
Espinós, Carmen
,
Mateu, Emilia
,
González-Cabo, Pilar
,
Baiget, Montserrat
,
Doménech, Montserrat
,
Bernal, Sara
,
Ayuso, Carmen
,
García-Sandoval, Blan
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2000
7
Current digests
Drack, Arlene V.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 43 KB
Your tags:
english, 2000
8
Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene
Eksandh, Louise
,
Ponjavic, Vesna
,
Munroe, Patricia B.
,
Eiberg, Hans
,
Uvebrant, Paul
,
Ehinger, Berndt
,
Mole, Sara E.
,
Andréasson, Sten
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2000
9
Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
Reig, Carlos
,
Trujillo, M. José
,
Martinez-Gimeno, Maria
,
Garcia-Sandoval, Blanca
,
Calvo, M. Teresa
,
Ayuso, Carmen
,
Carballo, Miguel
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 371 KB
Your tags:
english, 2000
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