Associated Papers
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
35546307 (PubMed )
Supplement: MGG3-10-e1968-s002.xlsx › table
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Molecular subtype switching in early-stage gastric cancers with multiple occurrences.
Takaoka S et al.
Journal of Gastroenterology, 2019
The advances of genetics research on Hirschsprung's disease.
Ke J et al.
Pediatric Investigation, 2018
Genetic defect of a combined 17 α-hydroxylase/17,20-lyase deficiency patient with adrenal crisis.
Zhang Y et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018
Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
Liu JA et al.
Gastroenterology, 2015
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S2
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
Fujioka H et al.
Clinical Genetics, 2005
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