Found: 167
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Renal dysplasia in Leonberger dogs – An emerging recessive congenital disorder?
- Published in:
- Animal Genetics, 2024, v. 55, n. 4, p. 700, doi. 10.1111/age.13439
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- Article
Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.
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- Acta Veterinaria Scandinavica, 2024, v. 66, n. 1, p. 1, doi. 10.1186/s13028-024-00752-y
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- Article
MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.
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- Animal Genetics, 2024, v. 55, n. 1, p. 152, doi. 10.1111/age.13374
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- Article
MOCOS‐associated renal syndrome in a Brown Swiss cattle.
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- 2023
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- Publication type:
- Case Study
A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 6, p. 2631, doi. 10.1111/jvim.16865
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- Article
Increased heterozygosity in low‐pass sequencing data allows identification of blood chimeras in cattle.
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- Animal Genetics, 2023, v. 54, n. 5, p. 613, doi. 10.1111/age.13334
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- Article
DYRK1B haploinsufficiency in a Holstein cattle with epilepsy.
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- Animal Genetics, 2023, v. 54, n. 5, p. 623, doi. 10.1111/age.13348
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- Article
MYH3‐associated non‐syndromic palatoschisis (cleft palate, CP) in Limousine cattle.
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- Animal Genetics, 2023, v. 54, n. 4, p. 581, doi. 10.1111/age.13317
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- Article
SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
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- 2023
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- Publication type:
- Case Study
Genomic regions underlying positive selection in local, Alpine cattle breeds.
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- Animal Genetics, 2023, v. 54, n. 3, p. 239, doi. 10.1111/age.13295
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- Article
Organoids of patient‐derived medullary thyroid carcinoma: The first milestone towards a new in vitro model in dogs.
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- Veterinary & Comparative Oncology, 2023, v. 21, n. 1, p. 111, doi. 10.1111/vco.12872
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- Article
Intra- vs. intergenerational justice tradeoffs in nuclear waste storage (W01).
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- 2023
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- Publication type:
- Abstract
Exploring the potential for transdisciplinary co-production in the case of nuclear waste disposal (W11).
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- 2023
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- Publication type:
- Abstract
The role of trust and risk perception in current German nuclear waste management.
- Published in:
- Risk Analysis: An International Journal, 2022, v. 42, n. 12, p. 2704, doi. 10.1111/risa.13889
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- Article
Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca 2+ -ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12364, doi. 10.3390/ijms232012364
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- Article
Associated regions for multiple birth in Brown Swiss and Original Braunvieh cattle on chromosomes 15 and 11.
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- Animal Genetics, 2022, v. 53, n. 5, p. 557, doi. 10.1111/age.13229
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- Publication type:
- Article
Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants.
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- Animal Genetics, 2022, v. 53, n. 5, p. 706, doi. 10.1111/age.13241
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- Publication type:
- Article
A germline de novo variant in NUMB associated with a double‐outlet right ventricle in Chianina cattle.
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- Animal Genetics, 2022, v. 53, n. 5, p. 713, doi. 10.1111/age.13236
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- Publication type:
- Article
The KIT:c.376G>A variant in German and Swiss alpacas (Vicugna pacos) with different coat colors.
- Published in:
- Animal Genetics, 2022, v. 53, n. 5, p. 718, doi. 10.1111/age.13231
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- Publication type:
- Article
A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor.
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- Animals (2076-2615), 2022, v. 12, n. 18, p. 2329, doi. 10.3390/ani12182329
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- Publication type:
- Article
A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.
- Published in:
- Acta Veterinaria Scandinavica, 2022, v. 64, n. 1, p. 1, doi. 10.1186/s13028-022-00641-2
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- Publication type:
- Article
Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?
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- Animal Genetics, 2022, v. 53, n. 4, p. 530, doi. 10.1111/age.13207
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- Publication type:
- Article
A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract.
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- Animal Genetics, 2022, v. 53, n. 3, p. 416, doi. 10.1111/age.13178
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- Publication type:
- Article
Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds.
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- Animal Genetics, 2022, v. 53, n. 3, p. 427, doi. 10.1111/age.13206
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- Article
A de novo start‐lost variant in ANKRD28 in a Holstein calf with dwarfism.
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- Animal Genetics, 2022, v. 53, n. 3, p. 470, doi. 10.1111/age.13204
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- Publication type:
- Article
The Complex and Diverse Genetic Architecture of the Absence of Horns (Polledness) in Domestic Ruminants, including Goats and Sheep.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 832, doi. 10.3390/genes13050832
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- Publication type:
- Article
Evaluation of truncating variants in the LCORL gene in relation to body size of goats from Switzerland.
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- Animal Genetics, 2022, v. 53, n. 2, p. 237, doi. 10.1111/age.13177
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- Publication type:
- Article
Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09403-6
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- Article
The Effects of FGF4 Retrogenes on Canine Morphology.
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- Genes, 2022, v. 13, n. 2, p. 325, doi. 10.3390/genes13020325
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- Publication type:
- Article
Runs of homozygosity in Swiss goats reveal genetic changes associated with domestication and modern selection.
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- Genetics Selection Evolution, 2022, v. 54, n. 1, p. 1, doi. 10.1186/s12711-022-00695-w
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- Publication type:
- Article
DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.
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- BMC Veterinary Research, 2022, v. 18, n. 1, p. 1, doi. 10.1186/s12917-021-03113-3
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- Article
A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 45, doi. 10.3390/genes13010045
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- Publication type:
- Article
A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.
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- Journal of Veterinary Internal Medicine, 2022, v. 36, n. 1, p. 292, doi. 10.1111/jvim.16316
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- Publication type:
- Article
Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.
- Published in:
- Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00686-3
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- Publication type:
- Article
Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland.
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- Animals (2076-2615), 2021, v. 11, n. 12, p. 3535, doi. 10.3390/ani11123535
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- Publication type:
- Article
Genome-Wide Analyses for Osteosarcoma in Leonberger Dogs Reveal the CDKN2A/B Gene Locus as a Major Risk Locus.
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- Genes, 2021, v. 12, n. 12, p. 1964, doi. 10.3390/genes12121964
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- Publication type:
- Article
CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12440, doi. 10.3390/ijms222212440
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- Article
KCNG1 -Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.
- Published in:
- 2021
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- Case Study
A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.
- Published in:
- Molecular Genetics & Genomics, 2021, v. 296, n. 6, p. 1313, doi. 10.1007/s00438-021-01824-8
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- Publication type:
- Article
Genetic evaluation of small ruminant lentivirus susceptibility in Valais blacknose sheep.
- Published in:
- Animal Genetics, 2021, v. 52, n. 5, p. 781, doi. 10.1111/age.13108
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- Publication type:
- Article
A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle.
- Published in:
- Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00650-1
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- Publication type:
- Article
A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 7, p. 1931, doi. 10.3390/ani11071931
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- Publication type:
- Article
A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1038, doi. 10.3390/genes12071038
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- Publication type:
- Article
GWAS Hits for Bilateral Convergent Strabismus with Exophthalmos in Holstein Cattle Using Imputed Sequence Level Genotypes.
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- Genes, 2021, v. 12, n. 7, p. 1039, doi. 10.3390/genes12071039
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- Publication type:
- Article
Introgression of ASIP and TYRP1 Alleles Explains Coat Color Variation in Valais Goats.
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- Journal of Heredity, 2021, v. 112, n. 5, p. 452, doi. 10.1093/jhered/esab024
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- Publication type:
- Article
The previously reported LRP4 c.4940C>T variant is not associated with syndactyly in cattle.
- Published in:
- Animal Genetics, 2021, v. 52, n. 3, p. 380, doi. 10.1111/age.13061
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- Publication type:
- Article
A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 643, doi. 10.3390/genes12050643
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- Publication type:
- Article
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.
- Published in:
- Animal Genetics, 2021, v. 52, n. 2, p. 244, doi. 10.1111/age.13033
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- Publication type:
- Article
Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 3, p. 624, doi. 10.3390/ani11030624
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- Publication type:
- Article
X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 3, p. 657, doi. 10.3390/ani11030657
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- Publication type:
- Article