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To investigate genetic mutations in Korean patients with Stargardt disease (STGD) using exome sequencing, and to analyze the correlations between genetic mutations and clinical phenotypes.
This article was published in the following journal.
Name: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
To describe the design and baseline characteristics of patients enrolled in the multicenter, prospective natural history study of Stargardt disease type 4.
To analyze clinical characteristics, genetic mutation and therapeutic effect of seven patients diagnosed with congenital hyperinsulinism(CHI).
To investigate the Stargardt disease phenotype associated with an unusually common and "extremely hypomorphic" ABCA4 variant, p.N1868I.
Stargardt disease (STGD1), the most common early-onset recessive macular degeneration, is caused by mutations in the gene encoding the ATP-binding cassette transporter ABCA4. Although extensive geneti...
This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in...
Inflammatory bowel disease(IBD) is a chronic inflammatory condition for gastrointestinal tract. Regarding its pathogenesis, there has been numerous studies to reveal the complex associati...
Primary congenital glaucoma, which presents at birth or in infancy, if left untreated, may threaten vision. The incidence of congenital glaucoma varies among different geographic locations...
The objective of this study is to assess and analyze the characteristics and usage of conventional and Korean medical services in postoperative patients. This study therefore investigates ...
To evaluate the safety and efficacy of Zimura™ (complement factor C5 inhibitor) compared to Sham in subjects with autosomal recessive Stargardt disease 1 (STGD1).
1. Investigate the clinical characteristics, medication satisfaction and quality of life of anti-hypertensive drugs in Korean hypertensive patients 2. Observe the changes of medica...
The identification, analysis, and resolution of moral problems that arise in the care of patients. (Bioethics Thesaurus)
Strategy for the analysis of RANDOMIZED CONTROLLED TRIALS AS TOPIC that compares patients in the groups to which they were originally randomly assigned.
Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.
Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., GENETIC ENGINEERING) is a central focus; laboratory methods used include TRANSFECTION and CLONING technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction.
Works about clinical studies in which a prospectively planned opportunity is included to modify trial designs and hypotheses based on analysis of data from subjects in the study .
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...