Search Results - "Jabak, M"
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1
Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13
Published in American journal of human genetics (01-08-1998)“…The extraocular fibrosis syndromes are congenital ocular-motility disorders that arise from dysfunction of the oculomotor, trochlear, and abducens nerves…”
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2
Workup for metastatic retinoblastoma. A review of 261 patients
Published in Ophthalmology (Rochester, Minn.) (01-02-1997)“…The means available to screen for retinoblastoma metastases, including bone marrow aspiration, lumbar puncture, and radionuclide scans, offer variable…”
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3
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1
Published in Clinical genetics (01-06-2001)“…Fundus albipunctatus (FA; OMIM 136880) is a rare form of apparently stationary night blindness characterized by the presence of myriad symmetrical round white…”
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4
Pharmacokinetics of azithromycin in trachoma patients: serum and tear levels
Published in Ophthalmology (Rochester, Minn.) (01-04-1998)“…To determine the effectiveness of single-dose oral azithromycin in the treatment of Chlamydia trachomatis through monitoring of tear and serum levels…”
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5
Simultaneous high-performance liquid chromatography analysis of azithromycin and two of its metabolites in human tears and plasma
Published in Therapeutic drug monitoring (01-12-1998)“…This article describes a high-performance liquid chromatographic (HPLC) method for the measurement of azithromycin (AZI) and two of its metabolites,…”
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6
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
Published in Human molecular genetics (12-02-2000)“…Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown developmental defect(s) in the anterior chamber. Recently, we…”
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7
Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia
Published in American journal of human genetics (01-02-1998)“…The autosomal recessive disorder primary congenital glaucoma (PCG) is caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber…”
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8
Orbital volume augmentation with subperiosteal room-temperature-vulcanized silicone implants: a clinical and histopathologic study
Published in Ophthalmic plastic and reconstructive surgery (01-03-1994)“…Enophthalmos, a clinical feature of the anophthalmic orbit, often produces a considerable cosmetic deformity. Management of this condition includes surgical…”
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Phacoemulsification at King Khaled Eye Specialist Hospital--the experience of the past
Published in International ophthalmology (1997)“…To study the outcome of phacoemulsification (PE) compared to standard extracapsular surgery before the introduction of state-of-the-art techniques…”
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10
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
Published in Human genetics (01-07-2003)“…We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including…”
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11
A novel locus for Leber congenital amaurosis on chromosome 14q24
Published in Human genetics (01-09-1998)“…Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of…”
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12
Extracapsular cataract extraction with or without posterior chamber intraocular lenses in eyes with cataract and high myopia
Published in Ophthalmology (Rochester, Minn.) (01-08-1995)“…To compare the results of insertion of low-power or zero-power posterior chamber intraocular lenses (PC IOLs) after cataract extraction in eyes with high…”
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13
Meesmann corneal epithelial dystrophy in a Saudi Arabian family
Published in American journal of ophthalmology (01-02-1998)“…Meesmann corneal epithelial dystrophy is a dominantly inherited disorder that was originally reported in Germany and later in descendants of German immigrants…”
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14
Prevalence and causes of visual impairment and blindness in the south western region of Saudi Arabia
Published in International ophthalmology (01-06-1993)“…A population-based survey of the prevalence of major causes of blindness and visual impairment was conducted in Bisha region, Saudi Arabia. Overall, 2882…”
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15
Antilipemic effects of heparin. I. Electrophoretic studies; the problems of the prealbumin fraction
Published in Magyar belorvosi archivum (1955) (01-10-1957)Get more information
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