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1.
[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].
Zhongguo Dang Dai Er Ke Za Zhi
; 19(8): 913-920, 2017 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-28774368
2.
An anti-passivation ink for the preparation of electrodes for use in electrochemical immunoassays.
J Zhejiang Univ Sci B
; 19(9): 726-734, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30178639
3.
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
Oncotarget
; 8(50): 87182-87193, 2017 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29152073
4.
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study.
Biomed Res Int
; 2016: 4124263, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27127784
5.
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Sci Rep
; 6: 29732, 2016 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27405544
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