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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: 133 \| Download: 456
2	Optimizing fluoropyrimidine therapy through dihydropyrimidine dehydrogenase polymorphism testing 5/15/2025 10:28:50 AM \| Browse: 93 \| Download: 466
3	Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies 2/28/2025 10:46:29 AM \| Browse: 128 \| Download: 508
4	Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report 12/26/2024 7:28:48 AM \| Browse: 118 \| Download: 620
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: 291 \| Download: 1099
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: 177 \| Download: 661
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: 164 \| Download: 802
8	Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma 6/11/2024 2:35:36 PM \| Browse: 179 \| Download: 731
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: 269 \| Download: 991
10	Diagnosis and treatment of McCune-Albright syndrome: A case report 9/25/2023 11:20:42 AM \| Browse: 282 \| Download: 1314
11	Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report 5/25/2023 4:10:54 PM \| Browse: 557 \| Download: 1144
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: 545 \| Download: 1284
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: 437 \| Download: 1296
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: 587 \| Download: 1746
15	Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports 9/16/2022 11:52:44 AM \| Browse: 705 \| Download: 2184
16	Gitelman syndrome: a case report and literature review 6/9/2022 7:17:56 AM \| Browse: 650 \| Download: 1669
17	Role of genetic testing in cardiomyopathies: Α primer for cardiologists 1/19/2022 6:37:29 AM \| Browse: 670 \| Download: 1579
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: 629 \| Download: 1714
19	Collagen VI-related myopathy with scoliosis alone: A case report and review of literature 6/24/2021 7:26:33 AM \| Browse: 675 \| Download: 2101
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: 862 \| Download: 1958
21	Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report 12/4/2020 9:57:00 AM \| Browse: 876 \| Download: 2105
22	Personalized chemotherapy in clear cell adenocarcinoma of the urethra: A case report 4/22/2020 10:32:14 AM \| Browse: 1037 \| Download: 2011
23	Genetic testing vs microforceps biopsy in pancreatic cysts: Systematic review and meta-analysis 7/14/2019 11:25:18 AM \| Browse: 1207 \| Download: 2472
24	Hereditary diffuse gastric cancer: One family’s story 1/12/2018 1:38:15 AM \| Browse: 1227 \| Download: 1987
25	Attenuated adenomatous polyposis of the large bowel: Present and future 6/20/2017 12:12:52 PM \| Browse: 1181 \| Download: 2237
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: 1369 \| Download: 2406
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: 1416 \| Download: 1919
28	Genetic testing in congenital heart disease: A clinical approach 2/22/2016 10:45:00 AM \| Browse: 1740 \| Download: 2315
29	Implications of multigene testing for hereditary breast cancer in primary care 1/31/2016 7:20:00 PM \| Browse: 1169 \| Download: 1877
30	Signs and genetics of rare cancer syndromes with gastroenterological features 8/17/2015 11:14:00 AM \| Browse: 1265 \| Download: 1606
31	SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct 9/15/2014 10:59:00 AM \| Browse: 1503 \| Download: 1356

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: 133 \| Download: 456
2	Optimizing fluoropyrimidine therapy through dihydropyrimidine dehydrogenase polymorphism testing 5/15/2025 10:28:50 AM \| Browse: 93 \| Download: 466
3	Comprehensive impact of PPARG mutations in familial partial lipodystrophy type 3: Diagnosis, therapeutic strategies 2/28/2025 10:46:29 AM \| Browse: 128 \| Download: 508
4	Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the COL7A1 gene: A case report 12/26/2024 7:28:48 AM \| Browse: 118 \| Download: 620
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: 291 \| Download: 1099
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: 177 \| Download: 661
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: 164 \| Download: 802
8	Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma 6/11/2024 2:35:36 PM \| Browse: 179 \| Download: 731
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: 269 \| Download: 991
10	Diagnosis and treatment of McCune-Albright syndrome: A case report 9/25/2023 11:20:42 AM \| Browse: 282 \| Download: 1314
11	Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report 5/25/2023 4:10:54 PM \| Browse: 557 \| Download: 1144
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: 545 \| Download: 1284
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: 437 \| Download: 1296
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: 587 \| Download: 1746
15	Familial mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome: Three case reports 9/16/2022 11:52:44 AM \| Browse: 705 \| Download: 2184
16	Gitelman syndrome: a case report and literature review 6/9/2022 7:17:56 AM \| Browse: 650 \| Download: 1669
17	Role of genetic testing in cardiomyopathies: Α primer for cardiologists 1/19/2022 6:37:29 AM \| Browse: 670 \| Download: 1579
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: 629 \| Download: 1714
19	Collagen VI-related myopathy with scoliosis alone: A case report and review of literature 6/24/2021 7:26:33 AM \| Browse: 675 \| Download: 2101
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: 862 \| Download: 1958
21	Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report 12/4/2020 9:57:00 AM \| Browse: 876 \| Download: 2105
22	Personalized chemotherapy in clear cell adenocarcinoma of the urethra: A case report 4/22/2020 10:32:14 AM \| Browse: 1037 \| Download: 2011
23	Genetic testing vs microforceps biopsy in pancreatic cysts: Systematic review and meta-analysis 7/14/2019 11:25:18 AM \| Browse: 1207 \| Download: 2472
24	Hereditary diffuse gastric cancer: One family’s story 1/12/2018 1:38:15 AM \| Browse: 1227 \| Download: 1987
25	Attenuated adenomatous polyposis of the large bowel: Present and future 6/20/2017 12:12:52 PM \| Browse: 1181 \| Download: 2237
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: 1369 \| Download: 2406
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: 1416 \| Download: 1919
28	Genetic testing in congenital heart disease: A clinical approach 2/22/2016 10:45:00 AM \| Browse: 1740 \| Download: 2315
29	Implications of multigene testing for hereditary breast cancer in primary care 1/31/2016 7:20:00 PM \| Browse: 1169 \| Download: 1877
30	Signs and genetics of rare cancer syndromes with gastroenterological features 8/17/2015 11:14:00 AM \| Browse: 1265 \| Download: 1606
31	SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct 9/15/2014 10:59:00 AM \| Browse: 1503 \| Download: 1356