638 results on '"Choi, Murim"'
Search Results
152. Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1 : Implication of expanded phenotypic spectrum of type I collagenopathy
153. Frequency data on four tetrameric STR loci D18S1270, D14S608, D16S3253 and D21S1437 in a Korean population
154. GABBR2mutations determine phenotype in rett syndrome and epileptic encephalopathy
155. Findings of a 1303 Korean whole-exome sequencing study
156. Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
157. Neurogenetic analysis of childhood disintegrative disorder
158. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)–associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173
159. eIF2B-related multisystem disorder in two sisters with atypical presentations
160. The Clonal Origins of Leukemic Progression of Myelodysplasia
161. Data of methylome and transcriptome derived from human dilated cardiomyopathy
162. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations
163. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
164. Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy
165. Epigenetic regulation of Kcna3 -encoding Kv1.3 potassium channel by cereblon contributes to regulation of CD4 + T-cell activation
166. Abstract 142: Mutation and immune profiles in early-stage lung squamous cell carcinoma
167. Abstract 5225: CDK11B, PTPRN2 and WDPCP were frequently duplicated genes in refractory/relapsed normal karyotype AML patients: Identifying structural variations using whole genome sequencing
168. Abstract 89: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma
169. Atypical presentation of infantile‐onset farber disease with novel ASAH1 mutations
170. GM3 synthase deficiency due toST3GAL5variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype
171. The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy
172. Ultra-rare Disease and Genomics-Driven Precision Medicine
173. Whole Exome Sequencing Reveals the Landscape of Clonal Evolution from MDS to AML Progression
174. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
175. Proteomic Analysis Reveals Distinct Metabolic Differences Between Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) and Macrophage Colony Stimulating Factor (M-CSF) Grown Macrophages Derived from Murine Bone Marrow Cells*
176. ASSOCIATION BETWEEN COMMON GENETIC VARIANTS OF LATE-ONSET ALZHEIMER’S DISEASE AND FAMILY HISTORY OF ALZHEIMER'S DEMENTIA: A PRELIMINARY STUDY
177. Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.
178. Fam83h null mice support a neomorphic mechanism for human ADHCAI
179. The dentin phosphoprotein repeat region and inherited defects of dentin
180. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation
181. Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
182. Abstract 968: Co-occurring genomic alterations define major subsets ofKRAS-mutant lung adenocarcinoma (LUAC) with distinct biology and therapeutic vulnerabilities
183. The role of de novo variants in complex and rare diseases pathogenesis
184. Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers
185. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
186. Author response: Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
187. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas
188. Neural-Specific Deletion of Htra2 Causes Cerebellar Neurodegeneration and Defective Processing of Mitochondrial OPA1
189. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
190. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens
191. Endogenous BMP antagonists regulate mammalian neural crest generation and survival
192. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
193. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition.
194. Taurodontism, variations in tooth number, and misshapened crowns inWnt10anull mice and human kindreds
195. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
196. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
197. CLCN2chloride channel mutations in familial hyperaldosteronism type II
198. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
199. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
200. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
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