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Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
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- 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
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
Neurofibromatosis type I: points to be considered by general pediatricians.
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- Clinical & Experimental Pediatrics, 2021, v. 64, n. 4, p. 149, doi. 10.3345/cep.2020.00871
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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
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.
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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.
- 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
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 512, doi. 10.1038/jhg.2010.58
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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. 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
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
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- 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
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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.
- Published in:
- 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
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 Genetic Testing in Children with Kidney Disease.
- Published in:
- 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
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
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- Publication type:
- Article
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 5, p. 479, doi. 10.5223/pghn.2019.22.5.479
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- Publication type:
- Article
Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2015, v. 18, n. 3, p. 187, doi. 10.5223/pghn.2015.18.3.187
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- Publication type:
- Article
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
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.
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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
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
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- Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1335, doi. 10.1007/s11011-019-00441-0
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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.
- Published in:
- Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131
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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.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1242387
- By:
- 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
Turnover prevention of a mobile robot on uneven terrain using the concept of stability space.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Robotica, 2008, v. 26, n. 2, p. 205, doi. 10.1017/S0263574707003773
- By:
- Publication type:
- Article
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 5, p. 771, doi. 10.1530/EJE-11-0597
- 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
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
- 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
Intelligent Lead: A Novel HRI Sensor for Guide Robots.
- Published in:
- Sensors (14248220), 2012, v. 12, n. 6, p. 8301, doi. 10.3390/s120608301
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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
- 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
- By:
- Publication type:
- Article