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- 2016
- Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
- 2015
- Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
- Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
- Decoding NF1 intragenic copy-number variations
- MAT2A Mutations predispose individuals to thoracic aortic aneurysms
- Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
- Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes
- Submicroscopic deletions at 13q32.1 cause congenital microcoria
- 2014
- Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia
- Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems