Associated Papers
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
Alhendi ASN et al.
Journal of Medical Genetics, 2022
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Di Gioia SA et al.
Scientific Reports, 2015
25988833 (PubMed )
Supplement: srep10200-s1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1.1
Select a paper to view details