Works matching AU Lee, Beom Hee
Results: 122
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.
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- BMC Cancer, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12885-025-13985-5
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- Publication type:
- Article
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
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- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862
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- Publication type:
- Article
Decreased renal uptake of <sup>99m</sup>Tc-DMSA in patients with tubular proteinuria.
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- Pediatric Nephrology, 2009, v. 24, n. 11, p. 2211, doi. 10.1007/s00467-009-1238-2
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- Publication type:
- Article
UTI in infancy: are voiding cystourethrography and prophylactic antibiotics necessary?
- Published in:
- 2009
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- Publication type:
- Letter
Variable phenotype of Pierson syndrome.
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- Pediatric Nephrology, 2008, v. 23, n. 6, p. 995, doi. 10.1007/s00467-008-0748-7
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- Publication type:
- Article
Idiopathic membranous nephropathy in children.
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- Pediatric Nephrology, 2006, v. 21, n. 11, p. 1707, doi. 10.1007/s00467-006-0246-8
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- Publication type:
- Article
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
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- Publication type:
- Article
Three Novel Pathogenic Mutations in K<sub>ATP</sub> Channel Genes and Somatic Imprinting Alterations of the 11p15 Region in Pancreatic Tissue in Patients with Congenital Hyperinsulinism.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
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- Publication type:
- Article
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.
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- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235
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- Publication type:
- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
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- Publication type:
- Article
Detecting Alu Element Insertion Variant in RP1 Gene Using Whole Genome Sequencing in Patients with Retinitis Pigmentosa.
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- Genes, 2024, v. 15, n. 10, p. 1, doi. 10.3390/genes15101290
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- Publication type:
- Article
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
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- Genes, 2021, v. 12, n. 5, p. 675, doi. 10.3390/genes12050675
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- Publication type:
- Article
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
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- Genes, 2021, v. 12, n. 2, p. 284, doi. 10.3390/genes12020284
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- Publication type:
- Article
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
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- Genes, 2020, v. 11, n. 11, p. 1356, doi. 10.3390/genes11111356
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- Publication type:
- Article
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13861, doi. 10.3390/ijms232213861
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- Publication type:
- Article
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2591, doi. 10.3390/ijms18122591
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- Publication type:
- Article
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
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- Publication type:
- journal article
Deep learning image segmentation for the reliable porosity measurement of high-capacity Ni-based oxide cathode secondary particles.
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- Journal of Analytical Science & Technology, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s40543-023-00407-z
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- Publication type:
- Article
The Incidence of Tuberculosis after a Measles Outbreak.
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- Clinical Infectious Diseases, 2008, v. 46, n. 6, p. 902, doi. 10.1086/528856
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- Publication type:
- Article
Probabilistic map merging for multi-robot RBPF-SLAM with unknown initial poses.
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- Robotica, 2012, v. 30, n. 2, p. 205, doi. 10.1017/S026357471100049X
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- Publication type:
- Article
Turnover prevention of a mobile robot on uneven terrain using the concept of stability space.
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- Robotica, 2009, v. 27, n. 5, p. 641, doi. 10.1017/S0263574708005018
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- Publication type:
- Article
Hierarchical sensor fusion for building a probabilistic local map using active sensor modules.
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- Robotica, 2008, v. 26, n. 3, p. 307, doi. 10.1017/S026357470700392X
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- Publication type:
- Article
A new compensation technique based on analysis of resampling process in FastSLAM.
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- Robotica, 2008, v. 26, n. 2, p. 205, doi. 10.1017/S0263574707003773
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- Publication type:
- Article
Phenotypes of atopic dermatitis identified by cluster analysis in early childhood.
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- Journal of Dermatology (John Wiley & Sons, Inc.), 2019, v. 46, n. 2, p. 117, doi. 10.1111/1346-8138.14714
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- Publication type:
- Article
Comparative proteomic analysis in children with idiopathic short stature ( ISS) before and after short-term recombinant human growth hormone (rh GH) therapy.
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- Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131
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- Publication type:
- Article
Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
PDDL Planning with Natural Language-Based Scene Understanding for UAV-UGV Cooperation.
- Published in:
- Applied Sciences (2076-3417), 2019, v. 9, n. 18, p. 3789, doi. 10.3390/app9183789
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- Publication type:
- Article
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829558
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- Publication type:
- Article
Response to the letter by Wang et al.: Selumetinib for plexiform neurofibroma: Advances and ongoing challenges.
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- Neuro-Oncology, 2024, v. 26, n. 12, p. 2394, doi. 10.1093/neuonc/noae181
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- Publication type:
- Article
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1242387
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- Publication type:
- Article
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
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- 2020
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- Publication type:
- Correction Notice
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
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- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4
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- Publication type:
- Article
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Published in:
- 2015
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- Publication type:
- journal article
The Rho-associated kinase inhibitor fasudil can replace Y-27632 for use in human pluripotent stem cell research.
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- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0233057
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- Publication type:
- Article
Intelligent Lead: A Novel HRI Sensor for Guide Robots.
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- Sensors (14248220), 2012, v. 12, n. 6, p. 8301, doi. 10.3390/s120608301
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- Publication type:
- Article
Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease.
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- Congenital Heart Disease, 2022, v. 17, n. 6, p. 653, doi. 10.32604/chd.2022.021580
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- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
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- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0147-5
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- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 160, doi. 10.1186/s13287-015-0147-5
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- Publication type:
- Article
Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
- Published in:
- Molecular Medicine, 2017, v. 23, p. 149, doi. 10.2119/molmed.2017.00023
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
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- Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1396, doi. 10.1002/ajh.27302
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- Publication type:
- Article
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
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- American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
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- Publication type:
- Article
Neurofibromatosis type I: points to be considered by general pediatricians.
- Published in:
- Clinical & Experimental Pediatrics, 2021, v. 64, n. 4, p. 149, doi. 10.3345/cep.2020.00871
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- Publication type:
- Article