subject area of
- DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients? Journal Articles
- DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome Journal Articles
- DHCR7 and Smith-Lemli-Opitz syndrome. Journal Articles
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome Journal Articles
- DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Journal Articles
- De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome Journal Articles
- Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism Journal Articles
- Evidence for the presence of key chlorophyll-biosynthesis-related proteins in the genus Rubrobacter (Phylum Actinobacteria) and its implications for the evolution and origin of photosynthesis Journal Articles
- Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome Journal Articles
- Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome Journal Articles
- Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) Journal Articles
- Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada Journal Articles
- Normal IQ is possible in Smith‐Lemli‐Opitz syndrome Journal Articles
- Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis Journal Articles
- SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Journal Articles
- Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype Journal Articles
- Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Journal Articles
- Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings Journal Articles
- Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype Journal Articles
- Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Journal Articles
- Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology Journal Articles
- The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology Journal Articles