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1دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s002Test
https://figshare.com/articles/journal_contribution/Primers_for_Sanger_sequencing_of_filtered_variants_in_the_MOD_OES_case_/24914492Test -
2دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s003Test
https://figshare.com/articles/journal_contribution/Control_dogs_of_different_breeds_and_health_status_genotyped_for_the_i_COL11A1_i_variant_/24914495Test -
3دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s001Test
https://figshare.com/articles/journal_contribution/Phenotype_keywords_used_in_VarElect_NGS_phenotyper_/24914489Test -
4دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s005Test
https://figshare.com/articles/journal_contribution/NCBI_multiple_amino_acid_sequence_alignment_of_201_mammals_/24914501Test -
5دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s006Test
https://figshare.com/articles/journal_contribution/UMD_Predictor-pro_pathogenicity_prediction_of_the_i_COL11A1_i_variant_in_the_human_/24914504Test -
6دورية أكاديمية
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.s004Test
https://figshare.com/articles/journal_contribution/Phenotypes_of_multiocular_defect_affected_Old_English_Sheepdogs_observed_during_initial_consultation_and_any_follow_up_examinations_/24914498Test -
7صورة
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
العلاقة: https://figshare.com/articles/figure/Missense_variant_identified_in_i_COL11A1_i_/24914507Test
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.g001Test
https://figshare.com/articles/figure/Missense_variant_identified_in_i_COL11A1_i_/24914507Test -
8
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.t004Test
https://figshare.com/articles/dataset/_i_COL11A1_i_genotyping_results_and_cataract_types_of_OES_diagnosed_with_non-HC_cataract_/24914519Test -
9
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.t001Test
https://figshare.com/articles/dataset/Core_phenotypes_in_MOD-affected_OES_/24914510Test -
10
المؤلفون: Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh
مصطلحات موضوعية: Medicine, Genetics, Evolutionary Biology, Sociology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, whole genome sequencing, various ocular abnormalities, single nucleotide substitution, reported visual deterioration, ophthalmic assessment revealed, old english sheepdog, four cases heterozygous, bilateral vitreal degeneration, amino acid change, different canine breeds, multiocular defect revealed, div >< p, multiocular defect, canine form, three affected, secondary glaucoma, retinal detachment, nine dogs, initial cohort, hereditary cataract, dominant mode, col11a1 <
الإتاحة: https://doi.org/10.1371/journal.pone.0295851.t005Test
https://figshare.com/articles/dataset/_i_COL11A1_i_genotyping_results_and_phenotypes_of_OES_diagnosed_with_other_ocular_abnormalities_/24914522Test