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Keyword: Whole exome sequencing

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1	From mutational signatures to practice: Artificial intelligence-guided repurposing for blast crisis chronic myeloid leukemia 2/6/2026 6:30:40 AM \| Browse: 62 \| Download: 221
2	Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease 1/27/2026 10:12:30 AM \| Browse: 114 \| Download: 187
3	Expanding the genetic landscape of colorectal polyposis: Progress and challenges 9/18/2025 9:55:59 AM \| Browse: 456 \| Download: 278
4	Monogenic inflammatory bowel disease: An unfolding enigma 6/16/2025 10:38:39 AM \| Browse: 211 \| Download: 574
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: 189 \| Download: 843
6	Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report 10/14/2024 7:12:20 AM \| Browse: 166 \| Download: 680
7	Unique Roberts syndrome with bilateral congenital glaucoma: A case report 6/30/2023 12:54:07 PM \| Browse: 366 \| Download: 1081
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: 587 \| Download: 1779
9	Exome analysis for Cronkhite-Canada syndrome: A case report 8/16/2022 1:35:32 AM \| Browse: 439 \| Download: 1579
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: 491 \| Download: 1498
11	Genetic characteristics of a patient with multiple primary cancers: A case report 9/28/2021 10:00:17 AM \| Browse: 671 \| Download: 2093
12	Alport syndrome combined with lupus nephritis in a Chinese family: A case report 6/11/2021 9:22:18 AM \| Browse: 569 \| Download: 1586
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: 584 \| Download: 1514
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: 903 \| Download: 2080
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: 1044 \| Download: 2936
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: 1385 \| Download: 2077

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