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Keyword: Genetic testing

Page 1 of 1 ( 31 items )
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1	Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study 1/5/2026 3:46:21 AM \| Browse: 173 \| Download: 692
2	Optimizing fluoropyrimidine therapy through dihydropyrimidine dehydrogenase polymorphism testing 5/15/2025 10:28:50 AM \| Browse: 124 \| Download: 550
3	Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies 2/28/2025 10:46:29 AM \| Browse: 155 \| Download: 618
4	Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report 12/26/2024 7:28:48 AM \| Browse: 143 \| Download: 744
5	Advancements in nutritional diagnosis and support strategies during the perioperative period for patients with liver cancer 8/16/2024 3:30:06 PM \| Browse: 367 \| Download: 1316
6	Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer 8/16/2024 8:03:14 AM \| Browse: 206 \| Download: 803
7	Benign recurrent intrahepatic cholestasis and psychosocial stressors on an adolescent's diagnosis and management: A case report 7/1/2024 6:03:24 AM \| Browse: 200 \| Download: 955
8	Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma 6/11/2024 2:35:36 PM \| Browse: 210 \| Download: 880
9	Letter to the editor: Aggressive variant prostate cancer: An exemplary case study and comprehensive literature survey 12/14/2023 6:01:48 AM \| Browse: 307 \| Download: 1123
10	Diagnosis and treatment of McCune-Albright syndrome: A case report 9/25/2023 11:20:42 AM \| Browse: 313 \| Download: 1526
11	Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report 5/25/2023 4:10:54 PM \| Browse: 668 \| Download: 1338
12	Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review 5/19/2023 10:53:20 AM \| Browse: 647 \| Download: 1460
13	Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report 5/16/2023 9:24:22 AM \| Browse: 531 \| Download: 1478
14	Endoscopic ultrasound-guided fine-needle aspiration pancreatic adenocarcinoma samples yield adequate DNA for next-generation sequencing: A cohort analysis 5/11/2023 8:05:04 AM \| Browse: 684 \| Download: 1930
15	Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports 9/16/2022 11:52:44 AM \| Browse: 801 \| Download: 2301
16	Gitelman syndrome: a case report and literature review 6/9/2022 7:17:56 AM \| Browse: 717 \| Download: 1909
17	Role of genetic testing in cardiomyopathies: Α primer for cardiologists 1/19/2022 6:37:29 AM \| Browse: 719 \| Download: 1704
18	2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report 8/5/2021 2:37:05 PM \| Browse: 703 \| Download: 1870
19	Collagen VI-related myopathy with scoliosis alone: A case report and review of literature 6/24/2021 7:26:33 AM \| Browse: 741 \| Download: 2298
20	Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes 5/13/2021 8:59:52 AM \| Browse: 962 \| Download: 2151
21	Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report 12/4/2020 9:57:00 AM \| Browse: 978 \| Download: 2243
22	Personalized chemotherapy in clear cell adenocarcinoma of the urethra: A case report 4/22/2020 10:32:14 AM \| Browse: 1094 \| Download: 2166
23	Genetic testing vs microforceps biopsy in pancreatic cysts: Systematic review and meta-analysis 7/14/2019 11:25:18 AM \| Browse: 1294 \| Download: 2769
24	Hereditary diffuse gastric cancer: One family’s story 1/12/2018 1:38:15 AM \| Browse: 1352 \| Download: 2123
25	Attenuated adenomatous polyposis of the large bowel: Present and future 6/20/2017 12:12:52 PM \| Browse: 1235 \| Download: 2366
26	Predictive potential of <i>IL-28B</i> genetic testing for interferon based hepatitis C virus therapy in Pakistan: Current scenario and future perspective 9/14/2016 11:03:00 AM \| Browse: 1434 \| Download: 2599
27	Should multi-gene panel testing replace limited BRCA1/2 testing? A review of genetic testing for hereditary breast and ovarian cancers 3/25/2016 3:16:00 PM \| Browse: 1507 \| Download: 2006
28	Genetic testing in congenital heart disease: A clinical approach 2/22/2016 10:45:00 AM \| Browse: 1836 \| Download: 2444
29	Implications of multigene testing for hereditary breast cancer in primary care 1/31/2016 7:20:00 PM \| Browse: 1222 \| Download: 2004
30	Signs and genetics of rare cancer syndromes with gastroenterological features 8/17/2015 11:14:00 AM \| Browse: 1379 \| Download: 1704
31	SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct 9/15/2014 10:59:00 AM \| Browse: 1569 \| Download: 1440

Page 1 of 1 ( 31 items )
<<
1
>>

1	Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study 1/5/2026 3:46:21 AM \| Browse: 173 \| Download: 692
2	Optimizing fluoropyrimidine therapy through dihydropyrimidine dehydrogenase polymorphism testing 5/15/2025 10:28:50 AM \| Browse: 124 \| Download: 550
3	Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies 2/28/2025 10:46:29 AM \| Browse: 155 \| Download: 618
4	Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report 12/26/2024 7:28:48 AM \| Browse: 143 \| Download: 744
5	Advancements in nutritional diagnosis and support strategies during the perioperative period for patients with liver cancer 8/16/2024 3:30:06 PM \| Browse: 367 \| Download: 1316
6	Implications of genetic testing and informed consent before and after genetic testing in individuals with cancer 8/16/2024 8:03:14 AM \| Browse: 206 \| Download: 803
7	Benign recurrent intrahepatic cholestasis and psychosocial stressors on an adolescent's diagnosis and management: A case report 7/1/2024 6:03:24 AM \| Browse: 200 \| Download: 955
8	Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma 6/11/2024 2:35:36 PM \| Browse: 210 \| Download: 880
9	Letter to the editor: Aggressive variant prostate cancer: An exemplary case study and comprehensive literature survey 12/14/2023 6:01:48 AM \| Browse: 307 \| Download: 1123
10	Diagnosis and treatment of McCune-Albright syndrome: A case report 9/25/2023 11:20:42 AM \| Browse: 313 \| Download: 1526
11	Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report 5/25/2023 4:10:54 PM \| Browse: 668 \| Download: 1338
12	Knowledge, attitudes and experiences of genetic testing for autism spectrum disorders among caregivers, patients, and health providers: A systematic review 5/19/2023 10:53:20 AM \| Browse: 647 \| Download: 1460
13	Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report 5/16/2023 9:24:22 AM \| Browse: 531 \| Download: 1478
14	Endoscopic ultrasound-guided fine-needle aspiration pancreatic adenocarcinoma samples yield adequate DNA for next-generation sequencing: A cohort analysis 5/11/2023 8:05:04 AM \| Browse: 684 \| Download: 1930
15	Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports 9/16/2022 11:52:44 AM \| Browse: 801 \| Download: 2301
16	Gitelman syndrome: a case report and literature review 6/9/2022 7:17:56 AM \| Browse: 717 \| Download: 1909
17	Role of genetic testing in cardiomyopathies: Α primer for cardiologists 1/19/2022 6:37:29 AM \| Browse: 719 \| Download: 1704
18	2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report 8/5/2021 2:37:05 PM \| Browse: 703 \| Download: 1870
19	Collagen VI-related myopathy with scoliosis alone: A case report and review of literature 6/24/2021 7:26:33 AM \| Browse: 741 \| Download: 2298
20	Uncertainty following an inconclusive result from the BRCA1/2 genetic test: A review about psychological outcomes 5/13/2021 8:59:52 AM \| Browse: 962 \| Download: 2151
21	Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report 12/4/2020 9:57:00 AM \| Browse: 978 \| Download: 2243
22	Personalized chemotherapy in clear cell adenocarcinoma of the urethra: A case report 4/22/2020 10:32:14 AM \| Browse: 1094 \| Download: 2166
23	Genetic testing vs microforceps biopsy in pancreatic cysts: Systematic review and meta-analysis 7/14/2019 11:25:18 AM \| Browse: 1294 \| Download: 2769
24	Hereditary diffuse gastric cancer: One family’s story 1/12/2018 1:38:15 AM \| Browse: 1352 \| Download: 2123
25	Attenuated adenomatous polyposis of the large bowel: Present and future 6/20/2017 12:12:52 PM \| Browse: 1235 \| Download: 2366
26	Predictive potential of <i>IL-28B</i> genetic testing for interferon based hepatitis C virus therapy in Pakistan: Current scenario and future perspective 9/14/2016 11:03:00 AM \| Browse: 1434 \| Download: 2599
27	Should multi-gene panel testing replace limited BRCA1/2 testing? A review of genetic testing for hereditary breast and ovarian cancers 3/25/2016 3:16:00 PM \| Browse: 1507 \| Download: 2006
28	Genetic testing in congenital heart disease: A clinical approach 2/22/2016 10:45:00 AM \| Browse: 1836 \| Download: 2444
29	Implications of multigene testing for hereditary breast cancer in primary care 1/31/2016 7:20:00 PM \| Browse: 1222 \| Download: 2004
30	Signs and genetics of rare cancer syndromes with gastroenterological features 8/17/2015 11:14:00 AM \| Browse: 1379 \| Download: 1704
31	SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct 9/15/2014 10:59:00 AM \| Browse: 1569 \| Download: 1440