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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: 591 \| Download: 1412
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: 494 \| Download: 1507
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: 560 \| Download: 1088
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 480 \| Download: 1367
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: 472 \| Download: 1621
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: 569 \| Download: 1638
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 491 \| Download: 1507
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: 691 \| Download: 2220
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: 567 \| Download: 1528
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 535 \| Download: 1519
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 549 \| Download: 1276
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 667 \| Download: 1697
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: 676 \| Download: 1920
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 645 \| Download: 1994
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: 570 \| Download: 1515
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: 634 \| Download: 1415
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: 617 \| Download: 2067
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 866 \| Download: 1961
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1068 \| Download: 3367
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: 753 \| Download: 2099
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: 870 \| Download: 1781
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1129 \| Download: 1903
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: 1155 \| Download: 2828
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: 1566 \| Download: 2315
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: 1221 \| Download: 2157
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: 1216 \| Download: 1966
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1195 \| Download: 2067
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1468 \| Download: 2105
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1251 \| Download: 2288
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: 1116 \| Download: 2264
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1162 \| Download: 2606
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1373 \| Download: 1896
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: 1305 \| Download: 2501
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1411 \| Download: 2794
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1428 \| Download: 2386
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1282 \| Download: 1825
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1268 \| Download: 2192
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1441 \| Download: 2855
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1368 \| Download: 2189
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1301 \| Download: 1874
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: 1343 \| Download: 1624
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1547 \| Download: 1785
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1291 \| Download: 1569
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1374 \| Download: 1866
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 1180 \| Download: 1771
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 1157 \| Download: 1109
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1530 \| Download: 1611
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 1192 \| Download: 1329
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1343 \| Download: 1317
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 1193 \| Download: 1442

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

1	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 591 \| Download: 1412
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: 494 \| Download: 1507
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: 560 \| Download: 1088
4	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 480 \| Download: 1367
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: 472 \| Download: 1621
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: 569 \| Download: 1638
7	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 491 \| Download: 1507
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: 691 \| Download: 2220
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: 567 \| Download: 1528
10	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 535 \| Download: 1519
11	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 549 \| Download: 1276
12	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 667 \| Download: 1697
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: 676 \| Download: 1920
14	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 645 \| Download: 1994
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: 570 \| Download: 1515
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: 634 \| Download: 1415
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: 617 \| Download: 2067
18	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 866 \| Download: 1961
19	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1068 \| Download: 3367
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: 753 \| Download: 2099
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: 870 \| Download: 1781
22	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1129 \| Download: 1903
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: 1155 \| Download: 2828
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: 1566 \| Download: 2315
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: 1221 \| Download: 2157
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: 1216 \| Download: 1966
27	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1195 \| Download: 2067
28	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1468 \| Download: 2105
29	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1251 \| Download: 2288
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: 1116 \| Download: 2264
31	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1162 \| Download: 2606
32	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1373 \| Download: 1896
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: 1305 \| Download: 2501
34	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1411 \| Download: 2794
35	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1428 \| Download: 2386
36	Variations and mutations in the hepatitis B virus genome and their associations with clinical characteristics 12/2/2015 12:01:00 PM \| Browse: 1282 \| Download: 1825
37	Disruption of NAD+ binding site in glyceraldehyde 3-phosphate dehydrogenase affects its intranuclear interactions 11/23/2015 11:10:00 AM \| Browse: 1268 \| Download: 2192
38	Hepatitis B virus genotypes and genome characteristics in China 6/11/2015 10:11:00 AM \| Browse: 1441 \| Download: 2855
39	Glucagon receptor gene mutations with hyperglucagonemia but without the glucagonoma syndrome 4/8/2015 2:59:00 PM \| Browse: 1368 \| Download: 2189
40	Natural YMDD-motif mutants affect clinical course of lamivudine in chronic hepatitis B 2/11/2015 4:38:00 PM \| Browse: 1301 \| Download: 1874
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: 1343 \| Download: 1624
42	Alternative splicing of DNA damage response genes and gastrointestinal cancers 12/18/2014 5:08:00 PM \| Browse: 1547 \| Download: 1785
43	Importance of genetic evaluation and testing in pediatric cardiomyopathy 12/1/2014 2:43:00 PM \| Browse: 1291 \| Download: 1569
44	Update on diagnosis and treatment of pulmonary alveolar microlithiasis 11/28/2014 9:33:00 AM \| Browse: 1374 \| Download: 1866
45	Epithelial-mesenchymal transition in colorectal cancer tissue of patients with Lynch syndrome 9/4/2014 5:33:00 PM \| Browse: 1180 \| Download: 1771
46	Hepatitis B virus mutations related to liver disease progression of Korean patients 9/4/2014 3:52:00 PM \| Browse: 1157 \| Download: 1109
47	Serrated pathway in colorectal carcinogenesis 9/1/2014 5:04:00 PM \| Browse: 1530 \| Download: 1611
48	Hepatitis B virus genetic mutations and evolution in liver diseases 8/28/2014 9:54:00 AM \| Browse: 1192 \| Download: 1329
49	Reduced genome size of Helicobacter pylori originating from East Asia 8/27/2014 5:15:00 PM \| Browse: 1343 \| Download: 1317
50	Significance of viral status on occurrence of hepatitis B-related hepatocellular carcinoma 8/26/2014 5:16:00 PM \| Browse: 1193 \| Download: 1442