73 results on '"Leeb, Tosso"'
Search Results
2. Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis
3. Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis
4. Single‐cell profiling of bronchoalveolar cells reveals a Th17 signature in neutrophilic severe equine asthma
5. Polioencephalopathy in Eurasier dogs
6. A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions
7. Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis
8. Response to letter regarding “SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain”
9. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise‐Induced Paroxysmal Movement Disorder
10. Response to letter regarding 'SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain'
11. A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder
12. SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis
13. Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease
14. STK36splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia
15. SCN9Avariant in a family of mixed breed dogs with congenital insensitivity to pain
16. Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis
17. A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness
18. Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy
19. KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex
20. APNPLA8frameshift variant in Australian shepherd dogs with hereditary ataxia
21. Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A)
22. A hypomyelinating leukodystrophy in German Shepherd dogs
23. COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy
24. Review for "Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis"
25. A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis
26. Precision Medicine in Cats: Novel Niemann‐Pick Type C1 Diagnosed by Whole‐Genome Sequencing
27. A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype
28. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome
29. A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi
30. An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis
31. MicroRNA fingerprints in serum and whole blood of sarcoid-affected horses as potential non-invasive diagnostic biomarkers
32. A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern
33. Genome-wide association study and heritability estimate for ectopic ureters in Entlebucher mountain dogs
34. A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome
35. X‐linked cutaneous mosaicism in a dog
36. Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression
37. MicroRNA fingerprints in serum and whole blood of sarcoid‐affected horses as potential non‐invasive diagnostic biomarkers
38. Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi
39. Induction of general anaesthesia by blowpipe darting in a fractious companion horse
40. Exclusion of adrenoceptor alpha 2 variants in a horse insensitive to medetomidine
41. Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease
42. A novelMITFvariant in a white American Standardbred foal
43. Genetic testing in veterinary dermatology
44. Initial characterization of stiff skin-like syndrome in West Highland white terriers
45. A breeding experiment confirms the dominant mode of inheritance of the brown coat colour associated with the496AspTYRP1allele in goats
46. A novelKITvariant in an Icelandic horse with white-spotted coat colour
47. Congenital aural atresia associated with agenesis of internal carotid artery in a girl with aFOXI3deletion
48. Whole genome sequencing confirmsKITinsertions in a white cat
49. Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis
50. Keratinocyte biology and pathology
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