Associated Papers
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C et al.
Human Mutation, 2007
Select a paper to view details