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Keyword: Gene mutation
1
Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature
12/14/2022 7:20:14 AM | Browse: 305 | Download: 1025
2
Prognostic role of multiple abnormal genes in non-small-cell lung cancer
7/22/2022 7:03:59 AM | Browse: 458 | Download: 1489
3
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
7/5/2022 1:22:30 AM | Browse: 379 | Download: 1277
4
Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report
5/13/2022 8:46:13 AM | Browse: 311 | Download: 1001
5
Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report
3/11/2022 12:39:22 AM | Browse: 489 | Download: 1878
6
Molecular typing of familial temporal lobe epilepsy
1/18/2022 2:50:51 AM | Browse: 428 | Download: 1225
7
Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
11/22/2021 10:34:52 AM | Browse: 439 | Download: 1237
8
Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report
9/10/2021 7:23:16 AM | Browse: 524 | Download: 1700
9
Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients
7/21/2021 8:24:10 AM | Browse: 488 | Download: 1697
10
Relationship between mismatch repair protein, RAS, BRAF, PIK3CA gene expression and clinicopathological characteristics in elderly colorectal cancer
4/2/2021 12:29:13 PM | Browse: 607 | Download: 1719
11
Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2 (c.541C>T) in a neonate: A case report
12/19/2020 4:08:52 PM | Browse: 805 | Download: 2251
12
Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature
12/25/2019 11:24:45 AM | Browse: 666 | Download: 1543
13
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature
9/20/2018 2:33:54 AM | Browse: 1084 | Download: 2155
14
Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report
9/7/2018 1:56:18 AM | Browse: 1225 | Download: 2092
15
Screening analysis of candidate gene mutations in a kindred with polycystic liver disease
3/1/2015 11:51:00 AM | Browse: 1130 | Download: 1751
16
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
1/18/2015 4:09:00 PM | Browse: 1321 | Download: 1793
17
Telomere shortening as genetic risk factor of liver cirrhosis
1/18/2015 4:09:00 PM | Browse: 1207 | Download: 1464
18
Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues
9/16/2014 8:06:00 PM | Browse: 1167 | Download: 1068
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