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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
Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.
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- JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744
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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
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
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 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
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
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
- Published in:
- 2022
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- Publication type:
- journal article
Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00904-5
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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
Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94194-5
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- Publication type:
- Article
Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.610730
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- Publication type:
- Article
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
- Published in:
- 2021
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- Publication type:
- journal article
Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease.
- Published in:
- 2021
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- Publication type:
- journal article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
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- Publication type:
- journal article
The definition of neuronopathic Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
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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.
- Published in:
- 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
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
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- Publication type:
- 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
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- Publication type:
- journal 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
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- Publication type:
- Article
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
- Published in:
- 2019
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- Publication type:
- journal article
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
- Published in:
- 2019
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- Publication type:
- Abstract
First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia.
- Published in:
- JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074
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- Publication type:
- Article
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 283, doi. 10.1159/000493468
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- Publication type:
- Article
Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial.
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- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 44, doi. 10.1159/000491016
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- Publication type:
- Article
Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 1, p. 54, doi. 10.1159/000489262
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- Publication type:
- Article
Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
- Published in:
- Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0
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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
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0546-4
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- Publication type:
- Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
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- Publication type:
- Article
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
- Published in:
- Pediatric Cardiology, 2016, v. 37, n. 8, p. 1539, doi. 10.1007/s00246-016-1468-6
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- Publication type:
- Article
Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 5, p. 325, doi. 10.1159/000444525
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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, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
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- Publication type:
- Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
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- Publication type:
- Article
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624
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- Publication type:
- Article
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 116, doi. 10.1159/000431324
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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
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Published in:
- 2015
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- Publication type:
- journal 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
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
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
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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
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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.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
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- Publication type:
- Article
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
- Published in:
- Metabolic Brain Disease, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s11011-014-9569-5
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- 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
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- Publication type:
- Article
A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.
- Published in:
- 2014
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- Publication type:
- Letter
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
Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- 2013
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- Publication type:
- Abstract
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