menu
아주대학교 의학문헌정보센터
검색
All
Title
Author
Keyword / MeSH
Year
Journal Title
Contains
Equals
repository
BROWSE
Communities & Collections
AJOU Authors
Title
Publication Year
Keyword
Keyword (Historical Materials)
Journal
AJOU Open Repository
Browsing "Pediatrics & Adolescent Medicine" by Journal : Human 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
가
나
다
라
마
바
사
아
자
차
카
타
파
하
All
가
나
다
라
마
바
사
아
자
차
카
타
파
하
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:
title
Publication Year
submit date
In order:
Ascending
Descending
Results/Page
5
10
15
20
25
30
35
40
45
50
55
60
65
70
75
80
85
90
95
100
Authors/Record:
All
1
5
10
15
20
25
30
35
40
45
50
Showing results 1 to 4 of 4
Pub Year
Title
Author(s)
2000
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
한시훈
1995
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
한시훈
1998
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
조성원
,
한시훈
2000
Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
한시훈
1
Browse
Communities & Collections
Ajou Authors
Titles
Publication Year
Keyword
Journal
Guide
아주대학교 의학문헌정보센터
