about
A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIGeneralized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.Increased expression of MERTK is associated with a unique form of canine retinopathyMolecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogsAssociation study reveals novel risk loci for sporadic inclusion body myositis.Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in DogsA homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasiaA novel KRT71 variant in curly-coated dogsAssembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in DogsCanine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.Targeted next-generation sequencing assay for detection of mutations in primary myopathiesA putative silencer variant in a spontaneous canine model of retinitis pigmentosaRecessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogsCopy number variation analysis increases the diagnostic yield in muscle diseasesNovel protective and risk loci in hip dysplasia in German Shepherds
P50
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P50
description
investigador
@es
researcher
@en
name
Meharji Arumilli
@en
type
label
Meharji Arumilli
@en
prefLabel
Meharji Arumilli
@en
P31
P496
0000-0003-4072-0996