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Keyword: mutation

1	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 239 \| Download: 651
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: 203 \| Download: 466
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: 285 \| Download: 402
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 249 \| Download: 467
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: 237 \| Download: 509
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: 293 \| Download: 504
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 282 \| Download: 562
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: 422 \| Download: 1077
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: 311 \| Download: 525
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 259 \| Download: 640
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 289 \| Download: 431
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 405 \| Download: 833
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: 393 \| Download: 888
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 358 \| Download: 928
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: 362 \| Download: 651
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: 351 \| Download: 645
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: 348 \| Download: 870
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 569 \| Download: 1025
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 786 \| Download: 2074
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: 525 \| Download: 995
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: 619 \| Download: 1019
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 858 \| Download: 1114
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: 866 \| Download: 1725
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: 920 \| Download: 1276
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: 859 \| Download: 1238
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: 955 \| Download: 1212
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 973 \| Download: 1297
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1138 \| Download: 1427
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 947 \| Download: 1439
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: 857 \| Download: 1442
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 912 \| Download: 1698
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1059 \| Download: 1271
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: 1041 \| Download: 1685
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1146 \| Download: 1864
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1167 \| Download: 1690
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1019 \| Download: 1248
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1025 \| Download: 1497
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1154 \| Download: 2040
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1140 \| Download: 1549
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1024 \| Download: 1259
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: 1051 \| Download: 1064
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1225 \| Download: 1344
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1047 \| Download: 1098
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1153 \| Download: 1406
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 911 \| Download: 1079
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 939 \| Download: 670
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1230 \| Download: 1097
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 935 \| Download: 907
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1079 \| Download: 863
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 932 \| Download: 1006

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1	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 239 \| Download: 651
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: 203 \| Download: 466
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: 285 \| Download: 402
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 249 \| Download: 467
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: 237 \| Download: 509
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: 293 \| Download: 504
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 282 \| Download: 562
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: 422 \| Download: 1077
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: 311 \| Download: 525
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 259 \| Download: 640
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 289 \| Download: 431
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 405 \| Download: 833
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: 393 \| Download: 888
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 358 \| Download: 928
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: 362 \| Download: 651
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: 351 \| Download: 645
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: 348 \| Download: 870
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 569 \| Download: 1025
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 786 \| Download: 2074
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: 525 \| Download: 995
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: 619 \| Download: 1019
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 858 \| Download: 1114
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: 866 \| Download: 1725
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: 920 \| Download: 1276
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: 859 \| Download: 1238
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: 955 \| Download: 1212
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 973 \| Download: 1297
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1138 \| Download: 1427
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 947 \| Download: 1439
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: 857 \| Download: 1442
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 912 \| Download: 1698
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1059 \| Download: 1271
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: 1041 \| Download: 1685
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1146 \| Download: 1864
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1167 \| Download: 1690
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1019 \| Download: 1248
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1025 \| Download: 1497
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1154 \| Download: 2040
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1140 \| Download: 1549
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1024 \| Download: 1259
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: 1051 \| Download: 1064
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1225 \| Download: 1344
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1047 \| Download: 1098
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1153 \| Download: 1406
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 911 \| Download: 1079
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 939 \| Download: 670
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1230 \| Download: 1097
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 935 \| Download: 907
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1079 \| Download: 863
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 932 \| Download: 1006