Works by Lee, Beom Hee
Results: 118
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
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- Publication type:
- journal article
Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.
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- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42
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- Publication type:
- Article
Clinical Genetic Testing in Children with Kidney Disease.
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- Childhood Kidney Diseases, 2021, v. 25, n. 1, p. 14, doi. 10.3339/jkspn.2021.25.1.14
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- Publication type:
- Article
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
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- Nephrology, 2008, v. 13, n. 8, p. 661, doi. 10.1111/j.1440-1797.2008.01029.x
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- Publication type:
- Article
Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease.
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- Proteomics - Clinical Applications, 2009, v. 3, n. 10, p. 1185, doi. 10.1002/prca.200800057
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- Publication type:
- Article
Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
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- 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.
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- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
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- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3724, doi. 10.3390/jcm9113724
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- Publication type:
- Article
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2430
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- Publication type:
- Article
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2330
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- Publication type:
- Article
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127
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- Publication type:
- Article
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- 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
Online turnover-free control for a mobile agent with a terrain prediction sensor.
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- Journal of Field Robotics, 2006, v. 23, n. 1, p. 59, doi. 10.1002/rob.20107
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- Publication type:
- Article
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 1, p. E130, doi. 10.1210/jc.2010-1789
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- Publication type:
- Article
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
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- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
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- Publication type:
- Article
Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.782780
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- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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- Publication type:
- Article
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
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- Publication type:
- Article
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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- Publication type:
- Article
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
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- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
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- Publication type:
- Article
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
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- Publication type:
- Article
Low prevalence of classical galactosemia in Korean population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
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- Publication type:
- Article
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
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- Journal of Human Genetics, 2010, v. 55, n. 8, p. 512, doi. 10.1038/jhg.2010.58
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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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- Article
Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.
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- 2013
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- Publication type:
- Abstract
Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.
- Published in:
- 2013
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- Publication type:
- Abstract
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.
- Published in:
- 2013
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- Publication type:
- Abstract
Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.
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- 2013
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- Publication type:
- Abstract
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
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- 2013
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- Publication type:
- Abstract
Enhanced-spectrum-based map merging for multi-robot systems.
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- Advanced Robotics, 2013, v. 27, n. 16, p. 1285, doi. 10.1080/01691864.2013.819609
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- Publication type:
- Article
A scan restoration method for robust polar scan matching in dynamic environments.
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- Advanced Robotics, 2013, v. 27, n. 11, p. 877, doi. 10.1080/01691864.2013.791741
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- Publication type:
- Article
Grafting: A Path Replanning Technique for Rapidly-Exploring Random Trees in Dynamic Environments.
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- Advanced Robotics, 2012, v. 26, n. 17, p. 2145, doi. 10.1080/01691864.2012.703301
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- Publication type:
- Article
Improved Feature Map Merging Using Virtual Supporting Lines for Multi-Robot Systems.
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- Advanced Robotics, 2011, v. 25, n. 13/14, p. 1675, doi. 10.1163/016918611X584631
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- Publication type:
- Article
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9
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- Publication type:
- Article
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01026-6
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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, 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
Ehlers–Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report.
- Published in:
- Respirology Case Reports, 2021, v. 9, n. 5, p. 1, doi. 10.1002/rcr2.747
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- Publication type:
- Article
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.
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- Pediatrics International, 2018, v. 60, n. 3, p. 302, doi. 10.1111/ped.13476
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- Publication type:
- Article
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
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- Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602
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- Publication type:
- Article
Analysis of Rank-Based Resampling Based on Particle Diversity in the Rao–Blackwellized Particle Filter for Simultaneous Localization and Mapping.
- Published in:
- Advanced Robotics, 2010, v. 24, n. 4, p. 585, doi. 10.1163/016918610X487126
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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
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
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Published in:
- 2015
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- Publication type:
- journal article