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The Journal of Investigative Dermatology
|
June 16, 2005
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire
Christine 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 disease
Stefano 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 sheep
Katie 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 Composition
Mathew D Littlejohn, Kathryn Tiplady, Tania A Fink, et al.
PNAS Nexus
|
July 3, 2025
Morula complementation restores male germline in <i>NANOS2</i> null sheep
Zachariah 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 <i>CARS2</i>-related mitochondrial disease
Jessie 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 1
Jessie 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 study
Suzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
July 1, 2009
Insulin resistance and risk factors for cardiovascular disease in young adult survivors of childhood acute lymphoblastic leukemia
Kevin C Oeffinger, Beverley Adams-Huet, Ronald G Victor, et al.
Genetics, Selection, Evolution : GSE
|
March 29, 2024
A common regulatory haplotype doubles lactoferrin concentration in milk
Thomas J Lopdell, Alexander J Trevarton, Janelle Moody, et al.
Page
of 18
Search research articles
Search
Showing results (131-140 of 177) with videos related to
Sort By:
Page
of 18
The Journal of Investigative Dermatology
|
June 16, 2005
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire
Christine 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 disease
Stefano 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 sheep
Katie 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 Composition
Mathew D Littlejohn, Kathryn Tiplady, Tania A Fink, et al.
PNAS Nexus
|
July 3, 2025
Morula complementation restores male germline in <i>NANOS2</i> null sheep
Zachariah 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 <i>CARS2</i>-related mitochondrial disease
Jessie 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 1
Jessie 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 study
Suzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
July 1, 2009
Insulin resistance and risk factors for cardiovascular disease in young adult survivors of childhood acute lymphoblastic leukemia
Kevin C Oeffinger, Beverley Adams-Huet, Ronald G Victor, et al.
Genetics, Selection, Evolution : GSE
|
March 29, 2024
A common regulatory haplotype doubles lactoferrin concentration in milk
Thomas J Lopdell, Alexander J Trevarton, Janelle Moody, et al.
Page
of 18