Associated Papers
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.
Zhang L et al.
Npj Genomic Medicine, 2021
34759310 (PubMed )
Supplement: 41525_2021_262_MOESM1_ESM.pdf
Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
Chen HX et al.
Journal of Cellular and Molecular Medicine, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto ML et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
Functional analysis of natural mutations in two TWIST protein motifs.
Funato N et al.
Human Mutation, 2005
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