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Genetic Diagnosis in an Indian Child with Alagille Syndrome
被引:4
作者
:
Agrawal, Sanwar
论文数:
0
引用数:
0
h-index:
0
机构:
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
Agrawal, Sanwar
[
1
]
Chennuri, Vasundhara
论文数:
0
引用数:
0
h-index:
0
机构:
Mangareesh Clin, A Z Genet Serv, Bombay, Maharashtra, India
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
Chennuri, Vasundhara
[
2
]
Agrawal, Pulak
论文数:
0
引用数:
0
h-index:
0
机构:
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
Agrawal, Pulak
[
1
]
机构
:
[1]
Ekta Inst Child Hlth, Raipur 492001, Chhattisgarh, India
[2]
Mangareesh Clin, A Z Genet Serv, Bombay, Maharashtra, India
来源
:
INDIAN JOURNAL OF PEDIATRICS
|
2015年
/ 82卷
/ 07期
关键词
:
MUTATIONS;
D O I
:
10.1007/s12098-014-1684-0
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:653 / 654
页数:2
相关论文
共 3 条
[1]
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families
[J].
Krantz, ID
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Krantz, ID
;
Colliton, RP
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Colliton, RP
;
Genin, A
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Genin, A
;
Rand, EB
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Rand, EB
;
Li, LH
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Li, LH
;
Piccoli, DA
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Piccoli, DA
;
Spinner, NB
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Spinner, NB
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998,
62
(06)
:1361
-1369
[2]
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
[J].
McDaniell, Ryan
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
McDaniell, Ryan
;
Warthen, Daniel M.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Warthen, Daniel M.
;
Sanchez-Lara, Pedro A.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Sanchez-Lara, Pedro A.
;
Pai, Athma
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Pai, Athma
;
Krantz, Ian D.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Krantz, Ian D.
;
Piccoli, David A.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Piccoli, David A.
;
Spinner, Nancy B.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Spinner, Nancy B.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2006,
79
(01)
:169
-173
[3]
Spinner NB, 2000, GENE REV
←
1
→
共 3 条
[1]
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families
[J].
Krantz, ID
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Krantz, ID
;
Colliton, RP
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Colliton, RP
;
Genin, A
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Genin, A
;
Rand, EB
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Rand, EB
;
Li, LH
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Li, LH
;
Piccoli, DA
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Piccoli, DA
;
Spinner, NB
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp, Div Human Genet, Philadelphia, PA 19104 USA
Spinner, NB
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998,
62
(06)
:1361
-1369
[2]
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
[J].
McDaniell, Ryan
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
McDaniell, Ryan
;
Warthen, Daniel M.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Warthen, Daniel M.
;
Sanchez-Lara, Pedro A.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Sanchez-Lara, Pedro A.
;
Pai, Athma
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Pai, Athma
;
Krantz, Ian D.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Krantz, Ian D.
;
Piccoli, David A.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Piccoli, David A.
;
Spinner, Nancy B.
论文数:
0
引用数:
0
h-index:
0
机构:
Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA
Spinner, Nancy B.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2006,
79
(01)
:169
-173
[3]
Spinner NB, 2000, GENE REV
←
1
→