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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 -
7دورية 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
المصدر: PLoS ONE, Vol 18, Iss 12, p e0295851 (2023)
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0295851&type=printableTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/af6f665cc29c4bac9030821f78453b84Test
الإتاحة: https://doi.org/10.1371/journal.pone.0295851Test
https://doaj.org/article/af6f665cc29c4bac9030821f78453b84Test -
8دورية أكاديمية
المؤلفون: Christopher A Jenkins, Lajos Kalmar, Kaspar Matiasek, Lorenzo Mari, Kaisa Kyöstilä, Hannes Lohi, Ellen C Schofield, Cathryn S Mellersh, Luisa De Risio, Sally L Ricketts
المصدر: PLoS Genetics, Vol 16, Iss 1, p e1008527 (2020)
العلاقة: https://doi.org/10.1371/journal.pgen.1008527Test; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/518c1db253d74125b19a86fd02a0168cTest
الإتاحة: https://doi.org/10.1371/journal.pgen.1008527Test
https://doaj.org/article/518c1db253d74125b19a86fd02a0168cTest -
9دورية أكاديمية
المؤلفون: Rebekkah J. Hitti-Malin, Louise M. Burmeister, Sally L. Ricketts, Thomas W. Lewis, Louise Pettitt, Mike Boursnell, Ellen C. Schofield, David Sargan, Cathryn S. Mellersh
المصدر: BMC Genetics, Vol 21, Iss 1, Pp 1-17 (2020)
مصطلحات موضوعية: Canine, Dog, Progressive retinal atrophy, PRA, Canine retinal degeneration, Inherited, Genetics, QH426-470
العلاقة: http://link.springer.com/article/10.1186/s12863-020-00911-wTest; https://doaj.org/toc/1471-2156Test; https://doaj.org/article/eb2103d4da6248a19a665b3c1dc3643bTest
الإتاحة: https://doi.org/10.1186/s12863-020-00911-wTest
https://doaj.org/article/eb2103d4da6248a19a665b3c1dc3643bTest -
10دورية أكاديمية
المؤلفون: Deborah Biasoli, Lara Compston-Garnett, Sally L Ricketts, Zeynep Birand, Celine Courtay-Cahen, Elena Fineberg, Maja Arendt, Kim Boerkamp, Malin Melin, Michele Koltookian, Sue Murphy, Gerard Rutteman, Kerstin Lindblad-Toh, Mike Starkey
المصدر: PLoS Genetics, Vol 15, Iss 3, p e1007967 (2019)
العلاقة: http://europepmc.org/articles/PMC6447235?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/1c15934d8ce548c096560e9a12fde670Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1007967Test
https://doaj.org/article/1c15934d8ce548c096560e9a12fde670Test