Associated Papers
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Becher N et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2020
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.
Peng Y et al.
International Journal of Molecular Sciences, 2018
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