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Keyword: Mutation

Page 1 of 2 ( 52 items )
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1	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 566 \| Download: 1363
2	One hundred and ninety-two weeks treatment of entecavir maleate for Chinese chronic hepatitis B predominantly genotyped B or C 9/27/2022 1:00:17 PM \| Browse: 469 \| Download: 1453
3	Correlation of molecular alterations with pathological features in hepatocellular carcinoma: Literature review and experience of an Italian center 7/4/2022 12:30:52 PM \| Browse: 538 \| Download: 1062
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 455 \| Download: 1291
5	Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review 3/22/2022 2:35:00 PM \| Browse: 448 \| Download: 1578
6	Malignant solitary fibrous tumor in the central nervous system treated with surgery, radiotherapy and anlotinib: A case report 1/12/2022 4:01:56 AM \| Browse: 550 \| Download: 1558
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 471 \| Download: 1471
8	Prediction of genetic alterations from gastric cancer histopathology images using a fully automated deep learning approach 11/25/2021 7:42:46 AM \| Browse: 663 \| Download: 2128
9	Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report 11/22/2021 10:34:52 AM \| Browse: 549 \| Download: 1470
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 513 \| Download: 1443
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 526 \| Download: 1233
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 639 \| Download: 1656
13	Aspirin-induced long-term tumor remission in hepatocellular carcinoma with adenomatous polyposis coli stopgain mutation: A case report 8/24/2021 2:07:00 AM \| Browse: 649 \| Download: 1870
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 621 \| Download: 1930
15	Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report 6/24/2021 7:26:33 AM \| Browse: 548 \| Download: 1475
16	Patient-specific induced pluripotent stem cells as “disease-in-a-dish” models for inherited cardiomyopathies and channelopathies – 15 years of research 4/22/2021 10:31:45 AM \| Browse: 602 \| Download: 1390
17	17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports 3/5/2021 12:08:55 PM \| Browse: 591 \| Download: 2012
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 832 \| Download: 1898
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1050 \| Download: 3267
20	Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report 9/4/2020 8:47:31 AM \| Browse: 733 \| Download: 2051
21	Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report 5/25/2020 9:57:11 AM \| Browse: 843 \| Download: 1754
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1107 \| Download: 1829
23	Tenofovir is a more suitable treatment than entecavir for chronic hepatitis B patients carrying naturally occurring rtM204I mutations 9/7/2019 4:43:36 AM \| Browse: 1131 \| Download: 2758
24	c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of literature 8/6/2019 11:50:46 AM \| Browse: 1405 \| Download: 2243
25	Incident hepatocellular carcinoma developing during tenofovir alafenamide treatment as a rescue therapy for multi-drug resistant hepatitis B virus infection: A case report and review of the literature 11/6/2018 10:20:22 AM \| Browse: 1207 \| Download: 2097
26	Development of tenofovir disoproxil fumarate resistance after complete viral suppression in a patient with treatment-naïve chronic hepatitis B: A case report and review of the literature 5/6/2018 1:12:00 PM \| Browse: 1202 \| Download: 1927
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1174 \| Download: 2047
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1445 \| Download: 2072
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1214 \| Download: 2215
30	Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach 4/28/2017 9:52:06 AM \| Browse: 1098 \| Download: 2228
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1142 \| Download: 2504
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1354 \| Download: 1862
33	Primary extragastrointestinal stromal tumor arising in the vaginal wall: significant clinicopathological characteristics of a rare aggressive soft tissue neoplasm 4/13/2016 6:47:00 PM \| Browse: 1284 \| Download: 2458
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1381 \| Download: 2706
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1408 \| Download: 2322
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1260 \| Download: 1778
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1244 \| Download: 2139
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1414 \| Download: 2804
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1351 \| Download: 2140
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1278 \| Download: 1827
41	Mutations of pre-core and basal core promoter before and after hepatitis B e antigen seroconversion 1/18/2015 4:09:00 PM \| Browse: 1323 \| Download: 1581
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1525 \| Download: 1761
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1267 \| Download: 1520
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1355 \| Download: 1846
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 1148 \| Download: 1713
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 1139 \| Download: 1072
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1511 \| Download: 1567
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 1169 \| Download: 1307
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1321 \| Download: 1278
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 1173 \| Download: 1393

Page 1 of 2 ( 52 items )
<<
1
2
>>

1	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 566 \| Download: 1363
2	One hundred and ninety-two weeks treatment of entecavir maleate for Chinese chronic hepatitis B predominantly genotyped B or C 9/27/2022 1:00:17 PM \| Browse: 469 \| Download: 1453
3	Correlation of molecular alterations with pathological features in hepatocellular carcinoma: Literature review and experience of an Italian center 7/4/2022 12:30:52 PM \| Browse: 538 \| Download: 1062
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 455 \| Download: 1291
5	Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review 3/22/2022 2:35:00 PM \| Browse: 448 \| Download: 1578
6	Malignant solitary fibrous tumor in the central nervous system treated with surgery, radiotherapy and anlotinib: A case report 1/12/2022 4:01:56 AM \| Browse: 550 \| Download: 1558
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 471 \| Download: 1471
8	Prediction of genetic alterations from gastric cancer histopathology images using a fully automated deep learning approach 11/25/2021 7:42:46 AM \| Browse: 663 \| Download: 2128
9	Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report 11/22/2021 10:34:52 AM \| Browse: 549 \| Download: 1470
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 513 \| Download: 1443
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 526 \| Download: 1233
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 639 \| Download: 1656
13	Aspirin-induced long-term tumor remission in hepatocellular carcinoma with adenomatous polyposis coli stopgain mutation: A case report 8/24/2021 2:07:00 AM \| Browse: 649 \| Download: 1870
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 621 \| Download: 1930
15	Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report 6/24/2021 7:26:33 AM \| Browse: 548 \| Download: 1475
16	Patient-specific induced pluripotent stem cells as “disease-in-a-dish” models for inherited cardiomyopathies and channelopathies – 15 years of research 4/22/2021 10:31:45 AM \| Browse: 602 \| Download: 1390
17	17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports 3/5/2021 12:08:55 PM \| Browse: 591 \| Download: 2012
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 832 \| Download: 1898
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1050 \| Download: 3267
20	Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report 9/4/2020 8:47:31 AM \| Browse: 733 \| Download: 2051
21	Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report 5/25/2020 9:57:11 AM \| Browse: 843 \| Download: 1754
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1107 \| Download: 1829
23	Tenofovir is a more suitable treatment than entecavir for chronic hepatitis B patients carrying naturally occurring rtM204I mutations 9/7/2019 4:43:36 AM \| Browse: 1131 \| Download: 2758
24	c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of literature 8/6/2019 11:50:46 AM \| Browse: 1405 \| Download: 2243
25	Incident hepatocellular carcinoma developing during tenofovir alafenamide treatment as a rescue therapy for multi-drug resistant hepatitis B virus infection: A case report and review of the literature 11/6/2018 10:20:22 AM \| Browse: 1207 \| Download: 2097
26	Development of tenofovir disoproxil fumarate resistance after complete viral suppression in a patient with treatment-naïve chronic hepatitis B: A case report and review of the literature 5/6/2018 1:12:00 PM \| Browse: 1202 \| Download: 1927
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1174 \| Download: 2047
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1445 \| Download: 2072
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1214 \| Download: 2215
30	Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach 4/28/2017 9:52:06 AM \| Browse: 1098 \| Download: 2228
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1142 \| Download: 2504
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1354 \| Download: 1862
33	Primary extragastrointestinal stromal tumor arising in the vaginal wall: significant clinicopathological characteristics of a rare aggressive soft tissue neoplasm 4/13/2016 6:47:00 PM \| Browse: 1284 \| Download: 2458
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1381 \| Download: 2706
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1408 \| Download: 2322
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1260 \| Download: 1778
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1244 \| Download: 2139
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1414 \| Download: 2804
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1351 \| Download: 2140
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1278 \| Download: 1827
41	Mutations of pre-core and basal core promoter before and after hepatitis B e antigen seroconversion 1/18/2015 4:09:00 PM \| Browse: 1323 \| Download: 1581
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1525 \| Download: 1761
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1267 \| Download: 1520
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1355 \| Download: 1846
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 1148 \| Download: 1713
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 1139 \| Download: 1072
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1511 \| Download: 1567
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 1169 \| Download: 1307
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1321 \| Download: 1278
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 1173 \| Download: 1393