Found: 95
Select item for more details and to access through your institution.
Sequencing cell-free fetal DNA in pregnant women with GCK-MODY: a proof-of-concept study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03331-6
- By:
- Publication type:
- Article
Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value.
- Published in:
- Child's Nervous System, 2014, v. 30, n. 3, p. 449, doi. 10.1007/s00381-013-2215-4
- By:
- Publication type:
- Article
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 4, p. 525, doi. 10.1007/s00381-013-2047-2
- By:
- Publication type:
- Article
Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 2, p. 317, doi. 10.1007/s00381-012-1939-x
- By:
- Publication type:
- Article
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
- Published in:
- Scientific Reports, 2015, p. 17154, doi. 10.1038/srep17154
- By:
- Publication type:
- Article
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
- Published in:
- Annals of Laboratory Medicine, 2017, v. 37, n. 6, p. 516, doi. 10.3343/alm.2017.37.6.516
- By:
- Publication type:
- Article
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.
- Published in:
- Diabetes & Metabolism Journal, 2024, v. 48, n. 3, p. 482, doi. 10.4093/dmj.2023.0078
- By:
- Publication type:
- Article
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
- Published in:
- Neurogenetics, 2014, v. 15, n. 3, p. 171, doi. 10.1007/s10048-014-0405-1
- By:
- Publication type:
- Article
Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 5, p. 676, doi. 10.1111/exd.14313
- By:
- Publication type:
- Article
Relapsing demyelinating CNS disease in a Korean pediatric population: Multiple sclerosis versus neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2011, v. 17, n. 1, p. 67, doi. 10.1177/1352458510382685
- By:
- Publication type:
- Article
Pediatric Stroke.
- Published in:
- Journal of Korean Neurosurgical Society, 2015, v. 57, n. 6, p. 396, doi. 10.3340/jkns.2015.57.6.396
- By:
- Publication type:
- Article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
- By:
- Publication type:
- Article
1387-P: Genotyping Cell-Free Fetal DNA to Decide whether to Treat Hyperglycemia during Pregnancy in Women with GCK Monogenic Diabetes—A Case Study.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-1387-P
- By:
- Publication type:
- Article
Generation of a Dystrophin Mutant in Dog by Nuclear Transfer Using CRISPR/Cas9-Mediated Somatic Cells: A Preliminary Study.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Satellite lesions of DNET: implications for seizure and tumor control after resection.
- Published in:
- Journal of Neuro-Oncology, 2019, v. 143, n. 3, p. 437, doi. 10.1007/s11060-019-03174-3
- By:
- Publication type:
- Article
Cover Image, Volume 38, Issue 9.
- Published in:
- Prenatal Diagnosis, 2018, v. 38, n. 11, p. i, doi. 10.1002/pd.5360
- By:
- Publication type:
- Article
Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.
- Published in:
- Child's Nervous System, 2008, v. 24, n. 12, p. 1499, doi. 10.1007/s00381-008-0681-x
- By:
- Publication type:
- Article
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1443, doi. 10.1002/acn3.51125
- By:
- Publication type:
- Article
An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00988
- By:
- Publication type:
- Article
Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?
- Published in:
- 2020
- By:
- Publication type:
- journal article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
- Published in:
- Annals of Laboratory Medicine, 2023, v. 43, n. 3, p. 280, doi. 10.3343/alm.2023.43.3.280
- By:
- Publication type:
- Article
Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2022, v. 42, n. 1, p. 79, doi. 10.3343/alm.2022.42.1.79
- By:
- Publication type:
- Article
Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 5, p. 473, doi. 10.3343/alm.2018.38.5.473
- By:
- Publication type:
- Article
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease.
- Published in:
- 2008
- By:
- Publication type:
- Report
Hereditary glomerulopathy associated with a mitochondrial tRNA<sup>Leu</sup> gene mutation.
- Published in:
- Pediatric Nephrology, 1999, v. 13, n. 6, p. 477, doi. 10.1007/s004670050641
- By:
- Publication type:
- Article
Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
- Published in:
- Clinics in Orthopedic Surgery, 2017, v. 9, n. 1, p. 109, doi. 10.4055/cios.2017.9.1.109
- By:
- Publication type:
- Article
Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2021, v. 34, n. 2, p. 83, doi. 10.1089/ped.2021.0029
- By:
- Publication type:
- Article
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 418, doi. 10.1111/cge.13903
- By:
- Publication type:
- Article
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 586, doi. 10.1111/cge.13713
- By:
- Publication type:
- Article
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 12, p. 1209, doi. 10.3349/ymj.2019.60.12.1209
- By:
- Publication type:
- Article
Delayed posterior circulation insufficiency in pediatric moyamoya disease.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 12, p. 2305, doi. 10.1007/s00415-014-7484-7
- By:
- Publication type:
- Article
Severe Lactic Acidosis Associated with Linezolid Use in a Patient with the Mitochondrial DNA A2706G Polymorphism.
- Published in:
- Pharmacotherapy, 2007, v. 27, n. 5, p. 771, doi. 10.1592/phco.27.5.771
- By:
- Publication type:
- Article
Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis.
- Published in:
- Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231210421
- By:
- Publication type:
- Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
- By:
- Publication type:
- Article
Whole genomic approach in mutation discovery of infantile spasms patients.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.944905
- By:
- Publication type:
- Article
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. e88, doi. 10.1111/ped.12442
- By:
- Publication type:
- Article
Letter to the Editor: Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 546
- By:
- Publication type:
- Article
Hemifacial Seizure of Cerebellar Ganglioglioma Origin: Seizure Control by Tumor Resection.
- Published in:
- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1204, doi. 10.1046/j.1528-1157.2001.43398.x
- By:
- Publication type:
- Article
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad233
- By:
- Publication type:
- Article
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268
- By:
- Publication type:
- Article
A 3‐Month‐Old Boy With Progressive Weakness.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus.
- Published in:
- Clinical Chemistry, 2015, v. 61, n. 6, p. 829, doi. 10.1373/clinchem.2014.236380
- By:
- Publication type:
- Article
Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea.
- Published in:
- Annals of Child Neurology, 2024, v. 32, n. 3, p. 167, doi. 10.26815/acn.2024.00472
- By:
- Publication type:
- Article