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Keyword: Gene mutation

Page 1 of 1 ( 33 items )
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1	Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report 11/14/2025 8:23:14 AM \| Browse: 154 \| Download: 596
2	Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility 11/14/2025 8:23:13 AM \| Browse: 153 \| Download: 586
3	Kirsten rat sarcoma G12C inhibitor treatment for a patient with relapsed metastatic lung adenocarcinoma: A case report 10/30/2025 7:07:09 AM \| Browse: 253 \| Download: 547
4	Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults 4/11/2025 2:19:31 AM \| Browse: 311 \| Download: 842
5	Effect of SPTLC1 on Type 2 diabetes mellitus 12/30/2024 9:47:18 AM \| Browse: 280 \| Download: 1220
6	Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases 10/30/2024 10:50:20 AM \| Browse: 288 \| Download: 964
7	Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report 6/29/2024 10:30:35 AM \| Browse: 299 \| Download: 1039
8	Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients 6/15/2024 2:49:03 AM \| Browse: 355 \| Download: 770
9	Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report 5/5/2024 10:11:22 AM \| Browse: 217 \| Download: 1133
10	Computed tomography radiogenomics: A potential tool for prediction of molecular subtypes in gastric stromal tumor 4/11/2024 2:23:39 AM \| Browse: 357 \| Download: 1344
11	Synchronous gastric and colon cancers: Important to consider hereditary syndromes and chronic inflammatory disease associations 3/12/2024 10:04:16 AM \| Browse: 171 \| Download: 705
12	Mutational landscape of TP53 and CDH1 in gastric cancer 2/25/2024 3:12:18 PM \| Browse: 337 \| Download: 1232
13	Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients 2/4/2024 10:57:42 AM \| Browse: 348 \| Download: 1690
14	Multi-organ hereditary hemorrhagic telangiectasia: A case report 9/25/2023 11:20:42 AM \| Browse: 488 \| Download: 1299
15	Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy 4/6/2023 10:35:23 AM \| Browse: 397 \| Download: 1355
16	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: 566 \| Download: 1518
17	Prognostic role of multiple abnormal genes in non-small-cell lung cancer 7/22/2022 7:03:59 AM \| Browse: 886 \| Download: 2178
18	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: 645 \| Download: 1736
19	Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report 5/13/2022 8:46:13 AM \| Browse: 452 \| Download: 1412
20	Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report 3/11/2022 12:39:22 AM \| Browse: 752 \| Download: 2315
21	Molecular typing of familial temporal lobe epilepsy 1/18/2022 2:50:51 AM \| Browse: 596 \| Download: 1673
22	Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report 11/22/2021 10:34:52 AM \| Browse: 615 \| Download: 1635
23	Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report 9/10/2021 7:23:16 AM \| Browse: 933 \| Download: 2390
24	Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients 7/21/2021 8:24:10 AM \| Browse: 874 \| Download: 2183
25	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: 909 \| Download: 2307
26	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: 1125 \| Download: 2830
27	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: 958 \| Download: 1936
28	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: 1331 \| Download: 2605
29	Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report 9/7/2018 1:56:18 AM \| Browse: 1453 \| Download: 2572
30	Screening analysis of candidate gene mutations in a kindred with polycystic liver disease 3/1/2015 11:51:00 AM \| Browse: 1452 \| Download: 2014
31	Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3 1/18/2015 4:09:00 PM \| Browse: 1476 \| Download: 2056
32	Telomere shortening as genetic risk factor of liver cirrhosis 1/18/2015 4:09:00 PM \| Browse: 1534 \| Download: 1792
33	Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues 9/16/2014 8:06:00 PM \| Browse: 1313 \| Download: 1280

Page 1 of 1 ( 33 items )
<<
1
>>

1	Novel Kruppel-like factor 11 variant of maturity-onset diabetes of the young type 7: A case report 11/14/2025 8:23:14 AM \| Browse: 154 \| Download: 596
2	Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility 11/14/2025 8:23:13 AM \| Browse: 153 \| Download: 586
3	Kirsten rat sarcoma G12C inhibitor treatment for a patient with relapsed metastatic lung adenocarcinoma: A case report 10/30/2025 7:07:09 AM \| Browse: 253 \| Download: 547
4	Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults 4/11/2025 2:19:31 AM \| Browse: 311 \| Download: 842
5	Effect of SPTLC1 on Type 2 diabetes mellitus 12/30/2024 9:47:18 AM \| Browse: 280 \| Download: 1220
6	Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases 10/30/2024 10:50:20 AM \| Browse: 288 \| Download: 964
7	Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report 6/29/2024 10:30:35 AM \| Browse: 299 \| Download: 1039
8	Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients 6/15/2024 2:49:03 AM \| Browse: 355 \| Download: 770
9	Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report 5/5/2024 10:11:22 AM \| Browse: 217 \| Download: 1133
10	Computed tomography radiogenomics: A potential tool for prediction of molecular subtypes in gastric stromal tumor 4/11/2024 2:23:39 AM \| Browse: 357 \| Download: 1344
11	Synchronous gastric and colon cancers: Important to consider hereditary syndromes and chronic inflammatory disease associations 3/12/2024 10:04:16 AM \| Browse: 171 \| Download: 705
12	Mutational landscape of TP53 and CDH1 in gastric cancer 2/25/2024 3:12:18 PM \| Browse: 337 \| Download: 1232
13	Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients 2/4/2024 10:57:42 AM \| Browse: 348 \| Download: 1690
14	Multi-organ hereditary hemorrhagic telangiectasia: A case report 9/25/2023 11:20:42 AM \| Browse: 488 \| Download: 1299
15	Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy 4/6/2023 10:35:23 AM \| Browse: 397 \| Download: 1355
16	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: 566 \| Download: 1518
17	Prognostic role of multiple abnormal genes in non-small-cell lung cancer 7/22/2022 7:03:59 AM \| Browse: 886 \| Download: 2178
18	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: 645 \| Download: 1736
19	Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report 5/13/2022 8:46:13 AM \| Browse: 452 \| Download: 1412
20	Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report 3/11/2022 12:39:22 AM \| Browse: 752 \| Download: 2315
21	Molecular typing of familial temporal lobe epilepsy 1/18/2022 2:50:51 AM \| Browse: 596 \| Download: 1673
22	Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report 11/22/2021 10:34:52 AM \| Browse: 615 \| Download: 1635
23	Diagnosis and treatment of an inborn error of bile acid synthesis type 4: A case report 9/10/2021 7:23:16 AM \| Browse: 933 \| Download: 2390
24	Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients 7/21/2021 8:24:10 AM \| Browse: 874 \| Download: 2183
25	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: 909 \| Download: 2307
26	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: 1125 \| Download: 2830
27	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: 958 \| Download: 1936
28	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: 1331 \| Download: 2605
29	Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report 9/7/2018 1:56:18 AM \| Browse: 1453 \| Download: 2572
30	Screening analysis of candidate gene mutations in a kindred with polycystic liver disease 3/1/2015 11:51:00 AM \| Browse: 1452 \| Download: 2014
31	Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3 1/18/2015 4:09:00 PM \| Browse: 1476 \| Download: 2056
32	Telomere shortening as genetic risk factor of liver cirrhosis 1/18/2015 4:09:00 PM \| Browse: 1534 \| Download: 1792
33	Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues 9/16/2014 8:06:00 PM \| Browse: 1313 \| Download: 1280