541 results on '"Ko, Jung Min"'
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2. Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea
3. Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease
4. Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene
5. Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center
6. Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3
7. De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
8. The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
9. Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes
10. Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
11. Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era
12. Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation
13. Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA
14. Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids
15. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
16. The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
17. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
18. Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants
19. Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease‐Specific Growth Chart.
20. Clinical and molecular spectra of BRAF-associated RASopathy
21. Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia
22. Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
23. Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
24. Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy
25. Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis
26. Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome
27. Dramatic Clinical Improvement With Biotin Mega‐Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
28. The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
29. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
30. The Outcomes of Endoscopic Suturectomy in Syndromic Craniosynostosis.
31. Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea
32. Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders
33. Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
34. Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
35. P358: Uncovering the clinical spectrum of citrin deficiency in Korea: Insights from a study of 30 patients
36. P357: Clinical and genetic profiling of cleidocranial dysplasia: A comprehensive study of 28 Korean patients
37. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
38. A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up
39. The Korean undiagnosed diseases program: lessons from a one-year pilot project
40. Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
41. Systematic analysis of disease-linked rare germline variants reveals new classes of cancer predisposing genes
42. A Case Report of Rubinstein-Taybi Syndrome Presented with Extensive Keloid Formation and Review of Literature
43. The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
44. Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
45. Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
46. DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data
47. A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
48. A 7-year-old girl presenting with a Bartter-like phenotype: Answers
49. Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients
50. Clinical manifestations and outcomes of 20 Korean hypochondroplasia patients with the FGFR3 N540K variant
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