1,808 results on '"Ki, Chang Seok"'
Search Results
102. Comparison of Aortic Dissection in Korean Patients With Versus Without the Marfan Syndrome
103. First Korean female child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
104. Two Novel Variants of COL3A1 in Patients with Vascular Ehlers-Danlos Syndrome: Importance of RNA Sequencing and Consideration of Testing Strategy
105. Native-sized recombinant spider silk protein produced in metabolically engineered Escherichia coli results in a strong fiber
106. Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4Variants by Whole-Exome Sequencing
107. SCN1A mutational analysis in Korean patients with Dravet syndrome
108. Response of Clinical Laboratories to the Ongoing COVID-19 Pandemic
109. Genomic Instability of Circulating Tumor DNA as a Prognostic Marker for Pancreatic Cancer Survival: A Prospective Cohort Study
110. Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis
111. Surface coating of hydroxyapatite on silk nanofiber through biomineralization using ten times concentrated simulated body fluid and the evaluation for bone regeneration
112. A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation
113. Clinical significance of smear positivity for acid-fast bacilli after ≥5 months of treatment in patients with drug-susceptible pulmonary tuberculosis
114. Clover-Shaped Advancement Flap for Correction of Short and Broad Columella in a Patient with Frontorhiny
115. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review
116. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
117. Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)
118. De novo mutations in SOD1 are a cause of ALS
119. Acceleration effect of sericin on shear-induced β-transition of silk fibroin
120. Mutant Enrichment with 3′-Modified Oligonucleotides (MEMO)-Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia
121. Spinal Stenosis with Paraparesis in a Korean Boy with Albrightʼs Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS
122. Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1
123. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
124. Intermittent Antibiotic Therapy for Nodular Bronchiectatic Mycobacterium avium Complex Lung Disease
125. Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family
126. A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia
127. Rapid detection and identification of 12 respiratory viruses using a dual priming oligonucleotide system-based multiplex PCR assay
128. Isolation of nucleated red blood cells in maternal blood for Non-invasive prenatal diagnosis
129. Effect of sericin blending on molecular orientation of regenerated silk fiber
130. Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene
131. Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing
132. Proposal of a New Prognostic Model for Differentiated Thyroid Cancer with TERT Promoter Mutations
133. A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome
134. Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene
135. Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea
136. A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report
137. Highly porous three-dimensional poly(lactide-co-glycolide) (PLGA) microfibrous scaffold prepared by electrospinning method: A comparison study with other PLGA type scaffolds on its biological evaluation
138. Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia
139. Evaluation of the effects of VKORC1 polymorphisms and haplotypes, CYP2C9 genotypes, and clinical factors on warfarin response in Sudanese patients
140. PHOX2B mutations in patients with Ondine–Hirschsprung disease and a review of the literature
141. Enhanced chondrogenic responses of articular chondrocytes onto porous silk fibroin scaffolds treated with microwave-induced argon plasma
142. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria
143. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
144. Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia
145. Occlusive vascular Ehlers–Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case
146. Acquired Gitelman Syndrome in a Patient With Primary Sjögren Syndrome
147. Effect of RGDS and KRSR peptides immobilized on silk fibroin nanofibrous mats for cell adhesion and proliferation
148. Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma
149. High-Resolution Magnetic Resonance Wall Imaging Findings of Moyamoya Disease
150. Evaluation of mutation profiling by matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry in fine needle aspirations from papillary thyroid cancer
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