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1دورية أكاديمية
المؤلفون: Mitra Kabir, Helen M. Stuart, Filipa M. Lopes, Elisavet Fotiou, Bernard Keavney, Andrew J. Doig, Adrian S. Woolf, Kathryn E. Hentges
المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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2دورية أكاديمية
المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.896125/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman
المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2468024920313644Test; https://doaj.org/toc/2468-0249Test
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4دورية أكاديمية
المؤلفون: Glenda M. Beaman, Filipa Lopes, Aybike Hofmann, W. Rœsch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akıncı, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie‐Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. McKenzie, Mark Elvin, Neil Roberts, Adrian S. Woolf, William G. Newman
مصطلحات موضوعية: Role of Extracellular Matrix in Biological Signaling, Cell Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Urotrauma and Genitourinary Development, Urology, Medicine, Health Sciences, Wnt Signaling in Development and Disease, Molecular Biology, Urethral Stricture Disease, Missense mutation, Sanger sequencing, Biology, Proband, Heparanase, Genetics, FOS Biological sciences, Exon, Phenotype, Gene, Mutation, Metastasis, Cancer
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5
المؤلفون: Ranjay, Jayadev, Mychel R P T, Morais, Jamie M, Ellingford, Sandhya, Srinivasan, Richard W, Naylor, Craig, Lawless, Anna S, Li, Jack F, Ingham, Eric, Hastie, Qiuyi, Chi, Maryline, Fresquet, Nikki-Maria, Koudis, Huw B, Thomas, Raymond T, O'Keefe, Emily, Williams, Antony, Adamson, Helen M, Stuart, Siddharth, Banka, Damian, Smedley, David R, Sherwood, Rachel, Lennon
المصدر: Genomics England Research Consortium 2022, ' A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations ', Science Advances, vol. 8, no. 20, eabn2265 . https://doi.org/10.1126/sciadv.abn2265Test
مصطلحات موضوعية: Extracellular Matrix Proteins, Multidisciplinary, Basement Membrane/metabolism, Extracellular Matrix/genetics, Animals, Humans, Caenorhabditis elegans, Caenorhabditis elegans/genetics, Basement Membrane, Zebrafish, Extracellular Matrix Proteins/metabolism, Zebrafish/genetics, Extracellular Matrix
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d51eaf7f96020b423d4c6daee051185Test
https://doi.org/10.1126/sciadv.abn2265Test -
6
المؤلفون: Glenda M, Beaman, Filipa M, Lopes, Aybike, Hofmann, Wolfgang, Roesch, Martin, Promm, Emilia K, Bijlsma, Chirag, Patel, Aykut, Akinci, Berk, Burgu, Jeroen, Knijnenburg, Gladys, Ho, Christina, Aufschlaeger, Sylvia, Dathe, Marie Antoinette, Voelckel, Monika, Cohen, Wyatt W, Yue, Helen M, Stuart, Edward A, Mckenzie, Mark, Elvin, Neil A, Roberts, Adrian S, Woolf, William G, Newman
المصدر: Frontiers in genetics. 13
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::59ae0b21c94e05f2536463f5a7b0e8bfTest
https://pubmed.ncbi.nlm.nih.gov/35812751Test -
7
المؤلفون: Sangeet Sidhu, J. Robert Harkness, John A. Sayer, Katherine A. Wood, Helen M. Stuart, Keng Wee Teik, Heather J. Cordell, Huw B. Thomas, Adrian S. Woolf, Glenda M. Beaman, William G. Newman
المصدر: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)
Kidney International Reportsمصطلحات موضوعية: Nephrology, Early B-Cell Factor, business.industry, Urofacial syndrome, MEDLINE, Medicine, Disease, Nephrology Rounds, business, medicine.disease, Bioinformatics, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb53ea7eda8248cbf33f6b1fa8c7178eTest
http://www.sciencedirect.com/science/article/pii/S2468024920313644Test -
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المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s002Test
https://figshare.com/articles/dataset/Table1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_XLSX/20129276Test -
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المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s003Test
https://figshare.com/articles/media/Video1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_MP4/20129279Test -
10صورة
المؤلفون: Glenda M. Beaman, Filipa M. Lopes, Aybike Hofmann, Wolfgang Roesch, Martin Promm, Emilia K. Bijlsma, Chirag Patel, Aykut Akinci, Berk Burgu, Jeroen Knijnenburg, Gladys Ho, Christina Aufschlaeger, Sylvia Dathe, Marie Antoinette Voelckel, Monika Cohen, Wyatt W. Yue, Helen M. Stuart, Edward A. Mckenzie, Mark Elvin, Neil A. Roberts, Adrian S. Woolf, William G. Newman
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, HPSE2, urofacial, heparanase-2, LRIG2, missense, Ochoa syndrome, triplication, rare disease
الإتاحة: https://doi.org/10.3389/fgene.2022.896125.s001Test
https://figshare.com/articles/figure/Image1_Expanding_the_HPSE2_Genotypic_Spectrum_in_Urofacial_Syndrome_A_Disease_Featuring_a_Peripheral_Neuropathy_of_the_Urinary_Bladder_JPEG/20129273Test