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Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13861, doi. 10.3390/ijms232213861
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- Publication type:
- Article
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
- By:
- Publication type:
- Article
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.
- Published in:
- 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.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602
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- Publication type:
- Article
Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
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- Publication type:
- Article
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1061, doi. 10.1002/ajmg.a.36973
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- Publication type:
- Article
Identification of the mechanism underlying a human chimera by SNP array analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2119, doi. 10.1002/ajmg.a.35476
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- Publication type:
- Article
Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-i PSCs.
- Published in:
- Stem Cells, 2015, v. 33, n. 5, p. 1447, doi. 10.1002/stem.1963
- By:
- 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.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
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- Publication type:
- Article
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical and genetic analyses of patients with lateralized overgrowth.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01362-1
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- Publication type:
- Article
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9
- By:
- Publication type:
- Article
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1335, doi. 10.1007/s11011-019-00441-0
- By:
- 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.
- Published in:
- Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131
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- Publication type:
- Article
Probabilistic map merging for multi-robot RBPF-SLAM with unknown initial poses.
- Published in:
- Robotica, 2012, v. 30, n. 2, p. 205, doi. 10.1017/S026357471100049X
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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
- By:
- Publication type:
- Case Study
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
- Published in:
- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862
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- Publication type:
- Article
The Rho-associated kinase inhibitor fasudil can replace Y-27632 for use in human pluripotent stem cell research.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0233057
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- Publication type:
- Article
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
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
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382
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- Publication type:
- Article
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 562, doi. 10.1111/cge.13848
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- Publication type:
- Article
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02000-8
- By:
- Publication type:
- Article
Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01639-z
- By:
- Publication type:
- Article
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01724-7
- By:
- Publication type:
- Article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75902-z
- By:
- Publication type:
- Article
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4
- By:
- Publication type:
- Article
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
- By:
- 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.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
- By:
- Publication type:
- Article
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235
- By:
- Publication type:
- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
- By:
- Publication type:
- Article
Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01026-6
- By:
- Publication type:
- Article
Phenotypes of atopic dermatitis identified by cluster analysis in early childhood.
- Published in:
- Journal of Dermatology, 2019, v. 46, n. 2, p. 117, doi. 10.1111/1346-8138.14714
- By:
- Publication type:
- Article