Found: 108
Select item for more details and to access through your institution.
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
- 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
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
- By:
- 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
- By:
- Publication type:
- Article
Deep learning image segmentation for the reliable porosity measurement of high-capacity Ni-based oxide cathode secondary particles.
- Published in:
- Journal of Analytical Science & Technology, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s40543-023-00407-z
- 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
Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1242387
- By:
- 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
- By:
- Publication type:
- Article
Eardrum-inspired soft viscoelastic diaphragms for CNN-based speech recognition with audio visualization images.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33755-2
- By:
- Publication type:
- Article
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127
- By:
- Publication type:
- 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
Crack Monitoring in Rotating Shaft Using Rotational Speed Sensor-Based Torsional Stiffness Estimation with Adaptive Extended Kalman Filters.
- Published in:
- Sensors (14248220), 2023, v. 23, n. 5, p. 2437, doi. 10.3390/s23052437
- By:
- 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
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
- By:
- Publication type:
- Article
Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease.
- Published in:
- Congenital Heart Disease, 2022, v. 17, n. 6, p. 653, doi. 10.32604/chd.2022.021580
- By:
- 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
- By:
- Publication type:
- Article
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829558
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 1, p. 22, doi. 10.6065/apem.2142144.072
- By:
- 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
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
- By:
- 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
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
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
- By:
- Publication type:
- Article
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 675, doi. 10.3390/genes12050675
- By:
- Publication type:
- Article
Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic Acidemia.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2021, v. 24, n. 3, p. 288, doi. 10.5223/pghn.2021.24.3.288
- 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
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
- By:
- Publication type:
- Article
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 284, doi. 10.3390/genes12020284
- By:
- 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
- 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
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
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1356, doi. 10.3390/genes11111356
- By:
- 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
- By:
- Publication type:
- Article
Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation.
- Published in:
- Neonatal Medicine, 2020, v. 27, n. 4, p. 197, doi. 10.5385/nm.2020.27.4.197
- 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
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- journal article
A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly.
- Published in:
- Neonatal Medicine, 2020, v. 27, n. 1, p. 16, doi. 10.5385/nm.2020.27.1.16
- 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
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
- By:
- Publication type:
- Article
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 5, p. 479, doi. 10.5223/pghn.2019.22.5.479
- 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
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
- Published in:
- 2018
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2591, doi. 10.3390/ijms18122591
- By:
- Publication type:
- Article
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
- Published in:
- Yonsei Medical Journal, 2017, v. 58, n. 3, p. 527, doi. 10.3349/ymj.2017.58.3.527
- By:
- Publication type:
- Article
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.
- Published in:
- 2017
- By:
- Publication type:
- Case Study