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Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia,
Posted on by BMJ in Uncategorized
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TBC1D24 Truncating Mutation Resulting in Severe Neurodegeneration,
Posted on by BMJ in Uncategorized
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Melanoma-prone families with CDK4 germline mutation: Phenotypic profile and associations with MC1R variants,
Posted on by BMJ in Uncategorized
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Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism,
Posted on by BMJ in Uncategorized
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Whole Exome Sequencing Identifies a Mutation for a Novel Form of Corneal Intraepithelial Dyskeratosis,
Posted on by BMJ in Uncategorized
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Mutations in TMEM231 cause Meckel–Gruber syndrome,
Posted on by BMJ in Uncategorized
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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy,
Posted on by BMJ in Uncategorized
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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation,
Posted on by BMJ in Uncategorized
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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome,
Posted on by BMJ in Uncategorized
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome,
Posted on by BMJ in Uncategorized
