Associated Papers
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
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
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R et al.
Journal of Neurogenetics, 0
Select a paper to view details