-
Comparison of the clinical scoring systems in Silver–Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing,
Posted on by BMJ in Uncategorized
-
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis,
Posted on by BMJ in Uncategorized
-
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation,
Posted on by BMJ in Uncategorized
-
Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study,
Posted on by BMJ in Uncategorized
-
Digenic inheritance in medical genetics,
Posted on by BMJ in Uncategorized
-
Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy,
Posted on by BMJ in Uncategorized
-
Meta-Analysis of Genome-Wide Studies Identifies MEF2C SNPs Associated with Bone Mineral Density at Forearm,
Posted on by BMJ in Uncategorized
-
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism,
Posted on by BMJ in Uncategorized
-
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia,
Posted on by BMJ in Uncategorized
-
Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis,
Posted on by BMJ in Uncategorized
