絞り込み

17020

広告

「"Owczarek-Lipska M "[Author]」の検索結果

19件中 1件~19件表示    検索結果をPubMedで見る PubMedで見る

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation.

Maine Coon renal screening: ultrasonographical characterisation and preliminary genetic analysis for common genes in cats with renal cysts.

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption).

A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism.

A 16-bp deletion in the canine PDK4 gene is not associated with dilated cardiomyopathy in a European cohort of Doberman Pinschers.

Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers.

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.

[Frequency of gene defects in selected European retriever populations].

Relationship of porcine IGF2 imprinting status to DNA methylation at the H19 DMD and the IGF2 DMRs 1 and 2.

A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle.

The bovine dilated cardiomyopathy locus maps to a 1.0-Mb interval on chromosome 18.

The locus for bovine dilated cardiomyopathy maps to chromosome 18.

Sort by
※並べ替えは表示に時間がかかります