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Keyword: Whole exome sequencing
1
From mutational signatures to practice: Artificial intelligence-guided repurposing for blast crisis chronic myeloid leukemia
2/6/2026 6:30:40 AM | Browse: 23 | Download: 102
2
Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease
1/27/2026 10:12:30 AM | Browse: 22 | Download: 52
3
Expanding the genetic landscape of colorectal polyposis: Progress and challenges
9/18/2025 9:55:59 AM | Browse: 426 | Download: 175
4
Monogenic inflammatory bowel disease: An unfolding enigma
6/16/2025 10:38:39 AM | Browse: 126 | Download: 433
5
Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand
10/30/2024 10:50:19 AM | Browse: 99 | Download: 689
6
Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report
10/14/2024 7:12:20 AM | Browse: 138 | Download: 560
7
Unique Roberts syndrome with bilateral congenital glaucoma: A case report
6/30/2023 12:54:07 PM | Browse: 326 | Download: 963
8
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: 543 | Download: 1629
9
Exome analysis for Cronkhite-Canada syndrome: A case report
8/16/2022 1:35:32 AM | Browse: 397 | Download: 1421
10
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: 389 | Download: 1369
11
Genetic characteristics of a patient with multiple primary cancers: A case report
9/28/2021 10:00:17 AM | Browse: 627 | Download: 1865
12
Alport syndrome combined with lupus nephritis in a Chinese family: A case report
6/11/2021 9:22:18 AM | Browse: 518 | Download: 1433
13
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: 530 | Download: 1309
14
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: 823 | Download: 1913
15
Histologic features and genomic alterations of primary colorectal adenocarcinoma predict the growth patterns of liver metastasis
7/14/2019 11:25:18 AM | Browse: 952 | Download: 2738
16
Clinical applications of high-throughput genetic diagnosis in inherited retinal dystrophies: Present challenges and future directions
5/29/2015 8:53:00 AM | Browse: 1283 | Download: 1968
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