Associated Papers
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
A Systematic Screening of ADHD-Susceptible Variants From 25 Chinese Parents-Offspring Trios.
Li Q et al.
Frontiers in Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Alkhiary YM et al.
Saudi Journal of Biological Sciences, 2016
27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Tumourigenic non-small-cell lung cancer mesenchymal circulating tumour cells: a clinical case study.
Morrow CJ et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016
27013395 (PubMed )
Supplement: supp_mdw122_mdw122supp_table1.xlsx › M5_ALL_PRESENT
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
27433940 (PubMed )
Supplement: pone.0159355.s013.xlsx › foetal_gDNA
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