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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome,
Posted on by BMJ in Uncategorized
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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families,
Posted on by BMJ in Uncategorized
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A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement,
Posted on by BMJ in Uncategorized
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MKS1 regulates ciliary INPP5E levels in Joubert syndrome,
Posted on by BMJ in Uncategorized
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High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome,
Posted on by BMJ in Uncategorized
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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome,
Posted on by BMJ in Uncategorized
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Zollino et al KANSL1 haploinsufficiency syndrome,
Posted on by BMJ in Uncategorized
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Neurogenetic evidence in the courtroom: a randomised controlled trial with German judges,
Posted on by BMJ in Uncategorized
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Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay,
Posted on by BMJ in Uncategorized
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Melanoma Genetics,
Posted on by BMJ in Uncategorized
