Browsing "Medical Genetics" by AJOU Author : 임신영
Showing results 1 to 9 of 9
Pub Year | | Title | AJOU Author(s) |
2015 | | A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 임신영, 정선용 |
2013 | | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study. | 김현주, 손영배, 임신영 |
2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
2010 | | Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome | 김현주, 임신영 |
2013 | | Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases | 손영배, 임신영, 정윤석 |
2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
2012 | | Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome | 손영배, 임신영 |
2015 | | The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses. | 손영배, 임신영 |
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