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Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
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Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
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33302902 (PubMed )
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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
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Scientific Reports, 2020
32873813 (PubMed )
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Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
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