Browsing "Medical Genetics" by Keyword : Mutation

All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:
  • Sort by:
  • In order:
  • Results/Page
  • Authors/Record:

Showing results 24 to 27 of 27

Pub YearTitleAJOU Author(s)
1998Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.김현주
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2015VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases.김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호
1

Browse