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Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations,
Posted on by BMJ in Uncategorized
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Pediatric Ovarian Tumours and Their Associated Cancer Susceptibility Syndromes,
Posted on by BMJ in Uncategorized
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Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal,
Posted on by BMJ in Uncategorized
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Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly,
Posted on by BMJ in Uncategorized
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New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants,
Posted on by BMJ in Uncategorized
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Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk,
Posted on by BMJ in Uncategorized
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A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy,
Posted on by BMJ in Uncategorized
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GWAS on prolonged gestation (post-term birth): analysis of successive Finnish birth cohorts,
Posted on by BMJ in Uncategorized
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SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family,
Posted on by BMJ in Uncategorized
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Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG,
Posted on by BMJ in Uncategorized
