subject area of
- Allelic Expression Imbalance ofTP53Mutated and Polymorphic Alleles in Head and Neck Tumors Journal Articles
- DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Journal Articles
- Error thresholds for RNA replication in the presence of both point mutations and premature termination errors Journal Articles
- Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association Journal Articles
- Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)] Journal Articles
- Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly Journal Articles
- Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients Journal Articles
- Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Journal Articles
- The defining DNA methylation signature of Floating-Harbor Syndrome Journal Articles
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening Journal Articles
- α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG) Journal Articles
- β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T] Journal Articles