Associated Papers
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM et al.
Scientific Reports, 2023
37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM5_ESM.xlsx › OST_complex_clinvar_result
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E et al.
Plos One, 2020
33206719 (PubMed )
Supplement: pone.0242534.s004.xlsx › Foglio1
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
de la Morena-Barrio ME et al.
Pediatric Research, 2018
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1312.477
Genetic testing for TMEM154 mutations associated with lentivirus susceptibility in sheep.
Heaton MP et al.
Plos One, 2013
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