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A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges,
Posted on by BMJ in Uncategorized
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Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix,
Posted on by BMJ in Uncategorized
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Assessing genome-wide copy number variation in the Han Chinese population,
Posted on by BMJ in Uncategorized
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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity,
Posted on by BMJ in Uncategorized
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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa,
Posted on by BMJ in Uncategorized
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First evidence of genotype-phenotype correlations in Gorlin syndrome,
Posted on by BMJ in Uncategorized
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Genetic causes of optic nerve hypoplasia,
Posted on by BMJ in Uncategorized
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The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium,
Posted on by BMJ in Uncategorized
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Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region,
Posted on by BMJ in Uncategorized
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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa,
Posted on by BMJ in Uncategorized
