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Volume 21; Issue 4
Main
Ophthalmic Genetics
Volume 21; Issue 4
Ophthalmic Genetics
Volume 21; Issue 4
1
Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5)
Kurbasic, Mirzada
,
Jones, V. Faye
,
Cook, Larry N.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 166 KB
Your tags:
english, 2000
2
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties
Colville, D.
,
Wang, Y.Y.
,
Jamieson, R.
,
Collins, F.
,
Hood, Jeni
,
Savige, J.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2000
3
Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)
Oetting, William S.
,
Armstrong, Catherine M.
,
Holleschau, Ann M.
,
DeWan, Andrew T.
,
Summers, C. Gail
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 164 KB
Your tags:
english, 2000
4
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study
Dubé, P.
,
Der Kaloustian, V.M.
,
Demczuk, S.
,
Saabti, H.
,
Koenekoop, R.K.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 150 KB
Your tags:
english, 2000
5
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family
Van Ghelue, Marijke
,
Eriksen, Hans L.
,
Ponjavic, Vesna
,
Fagerheim, Toril
,
Andréasson, Sten
,
Forsman-Semb, Kristina
,
Sandgren, Ola
,
Holmgren, Gösta
,
Tranebjærg, Lisbeth
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2000
6
Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy
Meire, F.M.
,
Van Genderen, M.M.
,
Lemmens, K.
,
Ens-Dokkum, M.H.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2000
7
SHORT syndrome: a case with high hyperopia and astigmatism
Bonnel, S.
,
Dureau, P.
,
LeMerrer, M.
,
Dufier, J.L.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 98 KB
Your tags:
english, 2000
8
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family
Trujillo, M.J.
,
Garcia-Sandoval, B.
,
Lorda-Sanchez, I.
,
Gimenez, A.
,
Sanz, R.
,
Rodriguez de Alba, M.
,
Gonzalez-Gonzalez, M.C.
,
Ibañez, A.
,
Ramos, C.
,
Ayuso, C.
Journal:
Ophthalmic Genetics
Year:
2000
Language:
english
File:
PDF, 230 KB
Your tags:
english, 2000
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