Gabriele Babini

1. Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
   2018/09/10 by Jacopo Morini, Lucia Nacci, Gabriele Babini +11 · 11 citations
   Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Neonatal Health and Biochemistry