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Browsing "Medical Genetics" by Keyword : Mutation, Missense
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Showing results 3 to 10 of 10
Pub Year
Title
Author(s)
2015
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
손영배
2013
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
손영배
2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
손영배
2017
Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies
김정현
2020
Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing
금창대
,
노정기
,
이해상
,
정선용
,
정재연
,
황진순
2016
Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls
권은별
,
이해상
,
정선용
,
황진순
2019
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
손영배
2012
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence
손영배
1
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아주대학교 의학문헌정보센터