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Scholar Results 1 - 10 of about 101 related to Kenna: Clinical and molecular genetic characterisation of a family segregating autosomal.... (0.12 sec) 

Clinical and molecular genetic characterisation of a family segregating autosomal dominant …

- nih.gov [PDF] 
P Kenna, F Mansergh, S Millington-Ward, A … - British Journal of Ophthalmology, 1997 - bjo.bmj.com
AIMS/BACKGROUND To characterise clinically a large kindred segregating retinitis
pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern
and perform genetic linkage studies in this family. Extensive linkage ...
Cited by 10 - Related articles - BL Direct - All 8 versions

[CITATION] Congenital stationary night blindness with negative electroretinogram


Y Miyaki, K Yagasaki, M Horigusci, Y Kawase … - Arch Ophthalmol, 1986
Cited by 2 - Related articles

[CITATION] Correction


A Gal, U Orth, W Baehr, E Schwinger, T … - Nature Genet, 1994
Cited by 3 - Related articles

[CITATION] Heterozygous mutation in the rod cGMP phosphodiesterase β-subunit gene in autosomal …


A Gal, U Orth, W Baehr, E Schwinger, T … - Nature Genet, 1994
Cited by 4 - Related articles

Dark adaptation testing in heterozygotes of Usher's syndrome.

- nih.gov [PDF] 
S Sondheimer, GA Fishman, RS Young, VA … - The British Journal of Ophthalmology, 1979 - pubmedcentral.nih.gov
Usher's syndrome is an autosomal recessively inherited trait that is
characterised by a congenital neurosensory hearing defect of varying severity
associated with retinitis pigmentosa. The syndrome has been estimated to ...
Cited by 15 - Related articles - All 7 versions

Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report …

- oxfordjournals.org
MR Ardalan, MM Shoja, S Kiuru-Enari - Nephrology Dialysis Transplantation, 2007 - ERA-EDTA
Several genetic mutations are associated with nephrotic syndrome, including
those of genes producing proteins nephrin, podocin, alpha actinin-4, an adapter
protein anchoring CD-2, canonical transient receptor potential-6 and ...
Cited by 7 - Related articles - BL Direct - All 4 versions

[PDF] PROGRESSIVE CONE DYSTROPHY AND SENSORINEURAL HEARING LOSS


W JA, J DE ZAEYTIJD - Bull. Soc. belge Ophtalmol, 2004 - ophthalmologia.be
SUMMARY A 39-year old man presented 13 years ago with a history of progressive
loss of vision and photopho- bia. A full ophthalmological and ENT work-up du-
ring several years of follow-up, including psychophy- sical as well as ...
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遗传连锁分析法对一常染色体显性遗传性视网膜色素变性家系的基因定位研究


马晓晔, 魏锐利 - 第二军医大学学报, 2003 - cqvip.com
首页; 期刊导航; 知识社区; 学者空间; 学术机构; 专题导读;
充值中心; 论文翻译. 登录 注册 帮助. 维普资讯 ...
Related articles - All 4 versions

常染色体显性遗传视网膜色素变性家系的基因筛查


滕云, 田虹 - 中华医学遗传学杂志, 2003 - cqvip.com
首页; 期刊导航; 知识社区; 学者空间; 学术机构; 专题导读;
充值中心; 论文翻译. 登录 注册 帮助. 维普资讯 ...
Related articles - All 3 versions

HEREDITARY GELSOLIN AMYLOIDOSIS IN AN IRANIAN FAMILY: THE FIRST REPORT …


MR Ardalan, MM Shoja, T Paunio, S Tanskanen … - XIth International Symposium on Amyloidosis, 2007 - books.google.com
HEREDITARY GELSOLIN AMYLOIDOSIS IN AN IRANIAN FAMILY: THE FIRST REPORT FROM THE
MIDDLE EAST MR Ardalan1, MM Shoja1, T. Paunio2, S. Tanskanen2, S. Kiuru-Enari3,
A. Rastegar4, and M. Kashgarian5 'Department of Nephrology, Tabriz ...
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