학술발표
GC녹십자의료재단의 학술발표 내역입니다.
Total 429
| 연도 | 학술지명/학회명 | 제목 |
|---|---|---|
| 2018 |
CNUHH 정밀의학 심포지엄 |
Clinical application and experience of NGS panel for constitutional disorder. |
| 2018 |
대한신생아 스크리닝학회 |
신생아 유전자 스크리닝 |
| 2018 | 산전유전상담심포지엄 | 어디까지 진단이 가능한가? Whole exome/genome sequencing. |
| 2018 | Korean J Pediatr |
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. |
| 2018 | Neurobiol aging |
Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia -related genes in 107 Korean patients with frontotemporal dementia. |
| 2018 | Front Pediatr |
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. |
| 2018 | Ann Clin Lab Sci. |
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review. |
| 2018 | Pediatr Blood Cancer |
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing. |
| 2018 | Obstet Gynecol Sci |
Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix : clinicopathological analysis of 17 cases. |
| 2018 |
Exp Clin Endocrinol Diabetes |
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. |