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Plos One|January 28, 2014
Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurusMathew D Littlejohn, Kathryn Tiplady, Thomas Lopdell, et al.
The Journal of Investigative Dermatology|June 16, 2005
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sireChristine A Ford, Angela M Stanfield, Richard J Spelman, et al.
Biochemical and Biophysical Research Communications|November 3, 2015
Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's diseaseStefano Patassini, Paul Begley, Suzanne J Reid, et al.
Genetics, Selection, Evolution : GSE|October 23, 2025
A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheepKatie L M Eager, Robert D Jolly, Leah Manning, et al.
Scientific Reports|May 6, 2016
Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk CompositionMathew D Littlejohn, Kathryn Tiplady, Tania A Fink, et al.
PNAS Nexus|July 3, 2025
Morula complementation restores male germline in NANOS2 null sheepZachariah L McLean, Lisanne M Fermin, Sarah J Appleby, et al.
JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.
Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.
Neurobiology of Disease|May 22, 2003
Molecular investigation of TBP allele length: a SCA17 cellular model and population studySuzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, et al.
Genetics, Selection, Evolution : GSE|March 29, 2024
A common regulatory haplotype doubles lactoferrin concentration in milkThomas J Lopdell, Alexander J Trevarton, Janelle Moody, et al.
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