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A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death
Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice
The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight
A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice
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