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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: 46 \| Download: 192
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: 46 \| Download: 187
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: 28 \| Download: 124
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: 73 \| Download: 410
5	Effect of SPTLC1 on Type 2 diabetes mellitus 12/30/2024 9:47:18 AM \| Browse: 165 \| Download: 737
6	Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases 10/30/2024 10:50:20 AM \| Browse: 103 \| Download: 607
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: 179 \| Download: 702
8	Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients 6/15/2024 2:49:03 AM \| Browse: 110 \| Download: 345
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: 140 \| Download: 748
10	Computed tomography radiogenomics: A potential tool for prediction of molecular subtypes in gastric stromal tumor 4/11/2024 2:23:39 AM \| Browse: 134 \| Download: 964
11	Synchronous gastric and colon cancers: Important to consider hereditary syndromes and chronic inflammatory disease associations 3/12/2024 10:04:16 AM \| Browse: 71 \| Download: 288
12	Mutational landscape of TP53 and CDH1 in gastric cancer 2/25/2024 3:12:18 PM \| Browse: 219 \| Download: 780
13	Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients 2/4/2024 10:57:42 AM \| Browse: 244 \| Download: 1231
14	Multi-organ hereditary hemorrhagic telangiectasia: A case report 9/25/2023 11:20:42 AM \| Browse: 256 \| Download: 929
15	Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy 4/6/2023 10:35:23 AM \| Browse: 269 \| Download: 981
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: 323 \| Download: 1076
17	Prognostic role of multiple abnormal genes in non-small-cell lung cancer 7/22/2022 7:03:59 AM \| Browse: 485 \| Download: 1559
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: 397 \| Download: 1346
19	Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report 5/13/2022 8:46:13 AM \| Browse: 325 \| Download: 1055
20	Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report 3/11/2022 12:39:22 AM \| Browse: 503 \| Download: 1946
21	Molecular typing of familial temporal lobe epilepsy 1/18/2022 2:50:51 AM \| Browse: 452 \| Download: 1289
22	Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report 11/22/2021 10:34:52 AM \| Browse: 456 \| Download: 1286
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: 559 \| Download: 1789
24	Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients 7/21/2021 8:24:10 AM \| Browse: 517 \| Download: 1764
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: 627 \| Download: 1815
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: 837 \| Download: 2321
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: 683 \| Download: 1613
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: 1119 \| Download: 2228
29	Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report 9/7/2018 1:56:18 AM \| Browse: 1255 \| Download: 2142
30	Screening analysis of candidate gene mutations in a kindred with polycystic liver disease 3/1/2015 11:51:00 AM \| Browse: 1149 \| Download: 1791
31	Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3 1/18/2015 4:09:00 PM \| Browse: 1337 \| Download: 1822
32	Telomere shortening as genetic risk factor of liver cirrhosis 1/18/2015 4:09:00 PM \| Browse: 1235 \| Download: 1515
33	Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues 9/16/2014 8:06:00 PM \| Browse: 1186 \| Download: 1093

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: 46 \| Download: 192
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: 46 \| Download: 187
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: 28 \| Download: 124
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: 73 \| Download: 410
5	Effect of SPTLC1 on Type 2 diabetes mellitus 12/30/2024 9:47:18 AM \| Browse: 165 \| Download: 737
6	Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases 10/30/2024 10:50:20 AM \| Browse: 103 \| Download: 607
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: 179 \| Download: 702
8	Comprehensive analysis of gene mutations and mismatch repair in Chinese colorectal cancer patients 6/15/2024 2:49:03 AM \| Browse: 110 \| Download: 345
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: 140 \| Download: 748
10	Computed tomography radiogenomics: A potential tool for prediction of molecular subtypes in gastric stromal tumor 4/11/2024 2:23:39 AM \| Browse: 134 \| Download: 964
11	Synchronous gastric and colon cancers: Important to consider hereditary syndromes and chronic inflammatory disease associations 3/12/2024 10:04:16 AM \| Browse: 71 \| Download: 288
12	Mutational landscape of TP53 and CDH1 in gastric cancer 2/25/2024 3:12:18 PM \| Browse: 219 \| Download: 780
13	Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients 2/4/2024 10:57:42 AM \| Browse: 244 \| Download: 1231
14	Multi-organ hereditary hemorrhagic telangiectasia: A case report 9/25/2023 11:20:42 AM \| Browse: 256 \| Download: 929
15	Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy 4/6/2023 10:35:23 AM \| Browse: 269 \| Download: 981
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: 323 \| Download: 1076
17	Prognostic role of multiple abnormal genes in non-small-cell lung cancer 7/22/2022 7:03:59 AM \| Browse: 485 \| Download: 1559
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: 397 \| Download: 1346
19	Mixed porokeratosis with a novel mevalonate kinase gene mutation: A case report 5/13/2022 8:46:13 AM \| Browse: 325 \| Download: 1055
20	Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report 3/11/2022 12:39:22 AM \| Browse: 503 \| Download: 1946
21	Molecular typing of familial temporal lobe epilepsy 1/18/2022 2:50:51 AM \| Browse: 452 \| Download: 1289
22	Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report 11/22/2021 10:34:52 AM \| Browse: 456 \| Download: 1286
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: 559 \| Download: 1789
24	Potential protein–phenotype correlation in 3 LPS-responsive beige-like anchor protein-deficient patients 7/21/2021 8:24:10 AM \| Browse: 517 \| Download: 1764
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: 627 \| Download: 1815
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: 837 \| Download: 2321
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: 683 \| Download: 1613
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: 1119 \| Download: 2228
29	Polycystic kidney and hepatic disease 1 gene mutations in von Meyenburg complexes: Case report 9/7/2018 1:56:18 AM \| Browse: 1255 \| Download: 2142
30	Screening analysis of candidate gene mutations in a kindred with polycystic liver disease 3/1/2015 11:51:00 AM \| Browse: 1149 \| Download: 1791
31	Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3 1/18/2015 4:09:00 PM \| Browse: 1337 \| Download: 1822
32	Telomere shortening as genetic risk factor of liver cirrhosis 1/18/2015 4:09:00 PM \| Browse: 1235 \| Download: 1515
33	Diagnostic and therapeutic progress of multi-drug resistance with anti-HBV nucleos(t)ide analogues 9/16/2014 8:06:00 PM \| Browse: 1186 \| Download: 1093