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Keyword: Mutation

Page 1 of 2 ( 67 items )
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1	Mucopolysaccharidosis type VI in the Russian registry: Further insights and considerations 3/6/2026 8:56:34 AM \| Browse: 61 \| Download: 166
2	Optimized digital polymerase chain reaction enables detection of telomerase reverse transcriptase C228T mutation for prognostic assessment in hepatocellular carcinoma 12/11/2025 8:20:55 AM \| Browse: 120 \| Download: 501
3	Monogenic defects in Russian children with autism spectrum disorders 10/31/2025 3:02:51 PM \| Browse: 91 \| Download: 365
4	Hepatitis B virus rtCYE/rtCYEI mutations may contribute limited tenofovir resistance: Analysis of a large sample of Chinese patients 8/27/2025 9:21:10 AM \| Browse: 272 \| Download: 832
5	Deep sequencing analysis of hepatitis B virus in patients with incomplete response to tenofovir alafenamide fumarate treatment 5/27/2025 7:04:50 AM \| Browse: 173 \| Download: 666
6	Therapeutic insights into epidermal growth factor receptor/reactive oxygen species proto-oncogene 1-receptor co-mutated non-small cell lung cancer: Crizotinib as a promising option 1/21/2025 9:22:10 AM \| Browse: 273 \| Download: 687
7	Major depressive disorder is associated with mitochondrial ND6 T14502C mutation in two Han Chinese families 11/7/2024 8:33:31 AM \| Browse: 242 \| Download: 981
8	Melanocortin 4 receptor mutation in obesity 10/31/2024 7:40:50 AM \| Browse: 222 \| Download: 547
9	C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report 5/14/2024 8:48:08 AM \| Browse: 277 \| Download: 762
10	Early embryonic failure caused by a novel mutation in the TUBB8 gene: A case report 4/16/2024 7:57:41 AM \| Browse: 306 \| Download: 1190
11	Inherited arrhythmias and gene therapy: Are there any ethical considerations to take into account? 12/25/2023 11:08:58 AM \| Browse: 393 \| Download: 1029
12	Comprehensive bioinformatic analysis of mind bomb 1 gene in stomach adenocarcinoma 7/12/2023 11:13:16 AM \| Browse: 423 \| Download: 1321
13	CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature 6/30/2023 12:54:07 PM \| Browse: 433 \| Download: 1475
14	Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report 5/16/2023 9:24:22 AM \| Browse: 413 \| Download: 1250
15	Major depressive disorder is correlated with the mitochondrial ND1 T3394C mutation in two Han Chinese families: Two case reports 2/17/2023 11:50:37 AM \| Browse: 447 \| Download: 1036
16	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 702 \| Download: 1702
17	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: 727 \| Download: 2395
18	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: 826 \| Download: 1536
19	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 612 \| Download: 1940
20	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: 634 \| Download: 2151
21	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: 681 \| Download: 1914
22	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 604 \| Download: 2022
23	Prediction of genetic alterations from gastric cancer histopathology images using a fully automated deep learning approach 11/25/2021 7:42:46 AM \| Browse: 854 \| Download: 2695
24	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: 701 \| Download: 2155
25	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 640 \| Download: 2171
26	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 760 \| Download: 1765
27	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 866 \| Download: 2188
28	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: 889 \| Download: 2557
29	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 872 \| Download: 2397
30	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: 757 \| Download: 2114
31	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: 772 \| Download: 1757
32	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: 789 \| Download: 2814
33	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 1037 \| Download: 2507
34	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1280 \| Download: 4103
35	Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report 9/4/2020 8:47:31 AM \| Browse: 856 \| Download: 2684
36	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: 1058 \| Download: 2358
37	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1298 \| Download: 2334
38	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: 1332 \| Download: 3511
39	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: 1790 \| Download: 2948
40	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: 1402 \| Download: 2660
41	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: 1329 \| Download: 2211
42	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1318 \| Download: 2587
43	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1650 \| Download: 2482
44	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1447 \| Download: 2889
45	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: 1352 \| Download: 2698
46	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1289 \| Download: 3085
47	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1549 \| Download: 2163
48	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: 1504 \| Download: 2918
49	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1589 \| Download: 3231
50	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1696 \| Download: 2790

Page 1 of 2 ( 67 items )
<<
1
2
>>

1	Mucopolysaccharidosis type VI in the Russian registry: Further insights and considerations 3/6/2026 8:56:34 AM \| Browse: 61 \| Download: 166
2	Optimized digital polymerase chain reaction enables detection of telomerase reverse transcriptase C228T mutation for prognostic assessment in hepatocellular carcinoma 12/11/2025 8:20:55 AM \| Browse: 120 \| Download: 501
3	Monogenic defects in Russian children with autism spectrum disorders 10/31/2025 3:02:51 PM \| Browse: 91 \| Download: 365
4	Hepatitis B virus rtCYE/rtCYEI mutations may contribute limited tenofovir resistance: Analysis of a large sample of Chinese patients 8/27/2025 9:21:10 AM \| Browse: 272 \| Download: 832
5	Deep sequencing analysis of hepatitis B virus in patients with incomplete response to tenofovir alafenamide fumarate treatment 5/27/2025 7:04:50 AM \| Browse: 173 \| Download: 666
6	Therapeutic insights into epidermal growth factor receptor/reactive oxygen species proto-oncogene 1-receptor co-mutated non-small cell lung cancer: Crizotinib as a promising option 1/21/2025 9:22:10 AM \| Browse: 273 \| Download: 687
7	Major depressive disorder is associated with mitochondrial ND6 T14502C mutation in two Han Chinese families 11/7/2024 8:33:31 AM \| Browse: 242 \| Download: 981
8	Melanocortin 4 receptor mutation in obesity 10/31/2024 7:40:50 AM \| Browse: 222 \| Download: 547
9	C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report 5/14/2024 8:48:08 AM \| Browse: 277 \| Download: 762
10	Early embryonic failure caused by a novel mutation in the TUBB8 gene: A case report 4/16/2024 7:57:41 AM \| Browse: 306 \| Download: 1190
11	Inherited arrhythmias and gene therapy: Are there any ethical considerations to take into account? 12/25/2023 11:08:58 AM \| Browse: 393 \| Download: 1029
12	Comprehensive bioinformatic analysis of mind bomb 1 gene in stomach adenocarcinoma 7/12/2023 11:13:16 AM \| Browse: 423 \| Download: 1321
13	CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature 6/30/2023 12:54:07 PM \| Browse: 433 \| Download: 1475
14	Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report 5/16/2023 9:24:22 AM \| Browse: 413 \| Download: 1250
15	Major depressive disorder is correlated with the mitochondrial ND1 T3394C mutation in two Han Chinese families: Two case reports 2/17/2023 11:50:37 AM \| Browse: 447 \| Download: 1036
16	Genetics in congenital anomalies of the hand 11/16/2022 11:29:26 AM \| Browse: 702 \| Download: 1702
17	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: 727 \| Download: 2395
18	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: 826 \| Download: 1536
19	Crouzon syndrome in a fraternal twin: A case report and review of the literature 6/2/2022 10:05:35 AM \| Browse: 612 \| Download: 1940
20	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: 634 \| Download: 2151
21	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: 681 \| Download: 1914
22	Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report 12/30/2021 8:21:53 AM \| Browse: 604 \| Download: 2022
23	Prediction of genetic alterations from gastric cancer histopathology images using a fully automated deep learning approach 11/25/2021 7:42:46 AM \| Browse: 854 \| Download: 2695
24	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: 701 \| Download: 2155
25	Rare mutation in MKRN3 in two twin sisters with central precocious puberty: Two case reports 11/10/2021 1:44:24 AM \| Browse: 640 \| Download: 2171
26	Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome 10/20/2021 7:18:39 AM \| Browse: 760 \| Download: 1765
27	Importance of BRCA mutation in the current treatment of pancreatic cancer beyond maintenance 10/20/2021 7:18:39 AM \| Browse: 866 \| Download: 2188
28	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: 889 \| Download: 2557
29	Polymorphisms in HIF-1a gene are not associated with diabetic retinopathy in China 8/9/2021 10:25:22 AM \| Browse: 872 \| Download: 2397
30	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: 757 \| Download: 2114
31	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: 772 \| Download: 1757
32	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: 789 \| Download: 2814
33	Molecular heterogeneity in intrahepatic cholangiocarcinoma 12/18/2020 5:58:43 AM \| Browse: 1037 \| Download: 2507
34	Prediction of clinically actionable genetic alterations from colorectal cancer histopathology images using deep learning 10/28/2020 8:26:09 AM \| Browse: 1280 \| Download: 4103
35	Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report 9/4/2020 8:47:31 AM \| Browse: 856 \| Download: 2684
36	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: 1058 \| Download: 2358
37	New era for pancreatic endoscopic ultrasound: From imaging to molecular pathology of pancreatic cancer 11/15/2019 7:45:48 AM \| Browse: 1298 \| Download: 2334
38	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: 1332 \| Download: 3511
39	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: 1790 \| Download: 2948
40	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: 1402 \| Download: 2660
41	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: 1329 \| Download: 2211
42	Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox 10/13/2017 9:39:52 AM \| Browse: 1318 \| Download: 2587
43	Emerging molecular targets and therapy for cholangiocarcinoma 7/12/2017 6:47:21 AM \| Browse: 1650 \| Download: 2482
44	Present and future of metastatic colorectal cancer treatment: A review of new candidate targets 7/12/2017 6:45:23 AM \| Browse: 1447 \| Download: 2889
45	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: 1352 \| Download: 2698
46	Response of BRCA1-mutated gallbladder cancer to olaparib: A case report 12/13/2016 12:40:00 AM \| Browse: 1289 \| Download: 3085
47	Mechanisms of resistance to anti-epidermal growth factor receptor inhibitors in metastatic colorectal cancer 7/22/2016 1:36:00 PM \| Browse: 1549 \| Download: 2163
48	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: 1504 \| Download: 2918
49	Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients 2/1/2016 9:28:00 AM \| Browse: 1589 \| Download: 3231
50	Genomic and epigenomic heterogeneity in molecular subtypes of gastric cancer 1/15/2016 3:02:00 PM \| Browse: 1696 \| Download: 2790