Associated Papers
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Chen Y et al.
Orphanet Journal of Rare Diseases, 2021
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Select a paper to view details