Found: 16
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The role of ketogenic diet in the treatment of refractory status epilepticus.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 11, p. e181, doi. 10.1111/j.1528-1167.2011.03289.x
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- Article
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T; 6843G>C] causes a Coffin-Siris Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2021, v. 41, n. 3, p. 350, doi. 10.3343/alm.2021.41.3.350
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- Article
Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135
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- Article
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2788, doi. 10.1002/ajmg.a.61828
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- Article
Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1859, doi. 10.1002/ajmg.a.36980
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- Publication type:
- Article
A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 198, doi. 10.1002/ajmg.a.36792
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- Publication type:
- Article
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family.
- Published in:
- Annals of Clinical & Laboratory Science, 2017, v. 47, n. 2, p. 229
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- Article
A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.
- Published in:
- Molecular Medicine Reports, 2018, v. 17, n. 6, p. 7611, doi. 10.3892/mmr.2018.8837
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- Publication type:
- Article
A novel in-frame mutation at the boundary between exon 21 and intron 21 of SCN4A in a family with paramyotonia congenita.
- Published in:
- Neurology Asia, 2020, v. 25, n. 2, p. 207
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- Publication type:
- Article
Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169226
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- Article
Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study.
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- Yonsei Medical Journal, 2013, v. 54, n. 6, p. 1463, doi. 10.3349/ymj.2013.54.6.1463
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- Publication type:
- Article
Effects of once-weekly dulaglutide on juvenile type 2 diabetes mellitus and obesity in Korea: a pilot study.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 4, p. 296, doi. 10.6065/apem.2244196.098
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- Publication type:
- Article
First identified Korean family with Tatton-Brown- Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 4, p. 253, doi. 10.6065/apem.2019.24.4.253
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- Article
Clinical Features and Genetic Analysis of Children With Hyperekplexia in Korea.
- Published in:
- 2013
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- Publication type:
- Case Study
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199321
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- Publication type:
- Article