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source DB source ID text # proj. # Ann.
PubMed 30702381 Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl w 8 0 show
PubMed 30541997 A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chi 2 0 show
PubMed 30517339 The patient profile of individuals with Alpha-1 antitrypsine gene mutations at a referral center in 2 0 show
PubMed 30454682 Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies. Protein O-mannosylt 8 0 show
PubMed 30419598 Proline 36 of the Factor XIII Activation Peptide Plays a Crucial Role in Substrate Recognition and Z 2 0 show
PubMed 30296891 A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site. Bi-allelic dysfunctiona 2 0 show
PubMed 30243094 Dual gene deficient models of ApcMin/+ mouse in assessing molecular mechanisms of intestinal carcino 2 0 show
PubMed 30221392 Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China. BA 2 0 show
PubMed 30150613 High-resolution in situ transcriptomics of Pseudomonas aeruginosa unveils genotype independent patho 2 0 show
PubMed 30144815 A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case repor 8 0 show