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Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos,
Posted on by BMJ in Uncategorized
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?,
Posted on by BMJ in Uncategorized
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A Splicing Mutation in VPS4B Causes Dentin Dysplasia I,
Posted on by BMJ in Uncategorized
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GATOR1 complex: the common genetic actor in focal epilepsies,
Posted on by BMJ in Uncategorized
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New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study,
Posted on by BMJ in Uncategorized
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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes,
Posted on by BMJ in Uncategorized
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When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome,
Posted on by BMJ in Uncategorized
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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype,
Posted on by BMJ in Uncategorized
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Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions,
Posted on by BMJ in Uncategorized
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Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population,
Posted on by BMJ in Uncategorized
