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An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies,
Posted on by BMJ in Uncategorized
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HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer,
Posted on by BMJ in Uncategorized
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Multigene testing of moderate-risk genes: be mindful of the missense,
Posted on by BMJ in Uncategorized
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Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy,
Posted on by BMJ in Uncategorized
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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects,
Posted on by BMJ in Uncategorized
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A Genetic Region Associated with Seizure Susceptibility is Identified in Wolf-Hischhorn Syndrome,
Posted on by BMJ in Uncategorized
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Identification of novel genetic causes of Rett syndrome-like phenotypes,
Posted on by BMJ in Uncategorized
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Current needs for human and medical genomics research infrastructure in low and middle income countries,
Posted on by BMJ in Uncategorized
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KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects,
Posted on by BMJ in Uncategorized
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Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia,
Posted on by BMJ in Uncategorized
