Ophthalmic Genetics, Volume 27, Issue 1 (2006)

Browse this journal
Sample our Bioscience journals, sign in here to start your access, Latest two full volumes FREE to you for 14 days

Ophthalmic Genetics, Volume 27, Issue 1 (2006)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Volume 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
Download citations Download PDFs Download issue

Research Report

Article
The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature
Garfield L. Miller, Sohel Somani, Malgorzata J. M. Nowaczyk, Annette Feigenbaum, Ronald G. Davidson, Teresa Costa & Alex V. Levin
Pages: 1-7
Published online: 08 Jul 2009
AbstractforThe Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature | Full Text | References | PDF (1.1 MB)
  • 185 Views
  • 8 CrossRef citations
  • 0Altmetric
Article
The Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease
Andrew M. Schimel B.Sc. & Marilyn Baird Mets M.D.
Pages: 9-14
Published online: 08 Jul 2009
AbstractforThe Natural History of Retinal Degeneration in Association with Cobalamin C (cbl C) Disease | Full Text | References | PDF (1.4 MB)
  • 194 Views
  • 26 CrossRef citations
  • 0Altmetric

Mutation Report

Article
A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis
H. Abouzeid, Y. Li, I. H. Maumenee, S. Dharmaraj & O. Sundin
Pages: 15-20
Published online: 08 Jul 2009
AbstractforA G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis | Full Text | References | PDF (1.1 MB)
  • 185 Views
  • 21 CrossRef citations
  • 0Altmetric
Article
Novel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients
La-ongsri Atchaneeyasakul, Adisak Trinavarat, Dhaivadee Dulayajinda, Kornphet Kumpornsin, Wanna Thongnoppakhun, Pa-thai Yenchitsomanus & Chanin Limwongse
Pages: 21-27
Published online: 08 Jul 2009
AbstractforNovel and De-novo Truncating PAX6 Mutations and Ocular Phenotypes in Thai Aniridia Patients | Full Text | References | PDF (512.7 KB)
  • 165 Views
  • 9 CrossRef citations
  • 0Altmetric

Case Report

Article
A Report of Paracentric Inversion of Chromosome 8 in Moebius Syndrome
James P. Kersey, Anthony J. Vivian & Evan Reid
Pages: 29-31
Published online: 08 Jul 2009
AbstractforA Report of Paracentric Inversion of Chromosome 8 in Moebius Syndrome | Full Text | References | PDF (774 KB)
  • 86 Views
  • 7 CrossRef citations
  • 0Altmetric

Letter to the Editor

Article
Letter to the Editor: Atrophic Chorioretinal Scar and Focal Scleral Bowing Following Thermochemotherapy with a Diode Laser for Retinoblastoma
Pim de Graaf, Jonas A. Castelijns, Annette C. Moll, Saskia M. Imhof & Antoinette Y. N. Schouten-van Meeteren
Pages: 33-35
Published online: 08 Jul 2009
AbstractforLetter to the Editor: Atrophic Chorioretinal Scar and Focal Scleral Bowing Following Thermochemotherapy with a Diode Laser for Retinoblastoma | Full Text | References | PDF (2.4 MB)
  • 33 Views
  • 2 CrossRef citations
  • 0Altmetric

Abstract

Article
Photoreceptor Gene RPGRIP1 Replacement Rescues Blind Mice
Robert K. Koenekoop
Page: 37
Published online: 08 Jul 2009
CitationforPhotoreceptor Gene RPGRIP1 Replacement Rescues Blind Mice | Full Text | References | PDF (38.9 KB)
  • 11 Views
  • 0 CrossRef citations
  • 0Altmetric
Article
JNK Pathway Implicated in Retinitis Pigmentosa
Robert K. Koenekoop
Pages: 37-38
Published online: 08 Jul 2009
CitationforJNK Pathway Implicated in Retinitis Pigmentosa | Full Text | References | PDF (42.3 KB)
  • 13 Views
  • 0 CrossRef citations
  • 0Altmetric

Explore articles

Explore the most recently published articles

Usher syndrome in the United Arab Emirates
Arif O. Khan
Article | Published online: 17 Jul 2024
Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma
Shreya Sirivolu et al.
Case Report | Published online: 17 Jul 2024
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia
Jinli Li et al.
Case Report | Published online: 17 Jul 2024
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1
Adam Mainguy et al.
Report | Published online: 3 Jul 2024
View all latest articles