Browsing "Medical Genetics" by Keyword : Infant, Newborn
Showing results 1 to 10 of 10
| Pub Year | | Title | Author(s) |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2013 | | Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization. | 김성환, 박문성, 손영배, 이장훈 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2017 | | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis | 손영배 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 2010 | | De novo pericentric inversion of chromosome 9 in congenital anomaly. | 정선용 |
| 2015 | | Disease-specific growth charts for Korean infants with Prader-Willi syndrome. | 손영배 |
| 2020 | | Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG) | 노오규, 박준은, 이용희, 정선용 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
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