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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: 140 | Download: 301
2
Prognostic role of multiple abnormal genes in non-small-cell lung cancer
7/22/2022 7:03:59 AM | Browse: 198 | Download: 386
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: 191 | Download: 329
4
Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report
5/13/2022 8:46:13 AM | Browse: 151 | Download: 274
5
Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report
3/11/2022 12:39:22 AM | Browse: 271 | Download: 994
6
Molecular typing of familial temporal lobe epilepsy
1/18/2022 2:50:51 AM | Browse: 222 | Download: 428
7
Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
11/22/2021 10:34:52 AM | Browse: 244 | Download: 537
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: 272 | Download: 776
9
Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients
7/21/2021 8:24:10 AM | Browse: 227 | Download: 538
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: 372 | Download: 816
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: 578 | Download: 1283
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: 490 | Download: 772
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: 840 | Download: 1377
14
Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report
9/7/2018 1:56:18 AM | Browse: 846 | Download: 1212
15
Screening analysis of candidate gene mutations in a kindred with polycystic liver disease
3/1/2015 11:51:00 AM | Browse: 911 | Download: 1258
16
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3
1/18/2015 4:09:00 PM | Browse: 1015 | Download: 1327
17
Telomere shortening as genetic risk factor of liver cirrhosis
1/18/2015 4:09:00 PM | Browse: 956 | Download: 970
18
Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues
9/16/2014 8:06:00 PM | Browse: 1000 | Download: 786
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