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Keyword: Whole exome sequencing
1
Expanding the genetic landscape of colorectal polyposis: Progress and challenges
9/18/2025 9:55:59 AM | Browse: 408 | Download: 113
2
Monogenic inflammatory bowel disease: An unfolding enigma
6/16/2025 10:38:39 AM | Browse: 102 | Download: 382
3
Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand
10/30/2024 10:50:19 AM | Browse: 83 | Download: 610
4
Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report
10/14/2024 7:12:20 AM | Browse: 128 | Download: 514
5
Unique Roberts syndrome with bilateral congenital glaucoma: A case report
6/30/2023 12:54:07 PM | Browse: 311 | Download: 907
6
Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: A case report
12/2/2022 12:50:19 PM | Browse: 525 | Download: 1586
7
Exome analysis for Cronkhite-Canada syndrome: A case report
8/16/2022 1:35:32 AM | Browse: 342 | Download: 1368
8
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
7/5/2022 1:22:29 AM | Browse: 369 | Download: 1320
9
Genetic characteristics of a patient with multiple primary cancers: A case report
9/28/2021 10:00:17 AM | Browse: 600 | Download: 1806
10
Alport syndrome combined with lupus nephritis in a Chinese family: A case report
6/11/2021 9:22:18 AM | Browse: 492 | Download: 1372
11
Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance image and whole exome sequencing: A case report
1/25/2021 10:52:18 AM | Browse: 493 | Download: 1219
12
Unexpected metastasis of intraductal papillary neoplasm of the bile duct without an invasive component to the brain and lungs: A case report
1/16/2020 7:58:40 AM | Browse: 809 | Download: 1808
13
Histologic features and genomic alterations of primary colorectal adenocarcinoma predict the growth patterns of liver metastasis
7/14/2019 11:25:18 AM | Browse: 921 | Download: 2614
14
Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions
5/29/2015 8:53:00 AM | Browse: 1259 | Download: 1937
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