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1دورية 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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2دورية أكاديمية
المصدر: Indian Journal of Nephrology, Vol 32, Iss 4, Pp 384-386 (2022)
مصطلحات موضوعية: inverted smile, neurogenic bladder, ochoa syndrome, urofacial syndrome, Diseases of the genitourinary system. Urology, RC870-923
العلاقة: http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2022;volume=32;issue=4;spage=384;epage=386;aulast=GovindarajanTest; https://doaj.org/toc/0971-4065Test; https://doaj.org/toc/1998-3662Test; https://doaj.org/article/61253f38acf049b4b0ae6913e38612dcTest
الإتاحة: https://doi.org/10.4103/ijn.ijn_235_21Test
https://doaj.org/article/61253f38acf049b4b0ae6913e38612dcTest -
3دورية أكاديمية
المؤلفون: Saad Alqasem, Basim Albaqawi, Abdelazim Abasher, Omaya Banihani
المصدر: Urology Case Reports, Vol 38, Iss , Pp 101679- (2021)
مصطلحات موضوعية: Urofacial syndrome, Ochoa syndrome, Voiding dysfunction, Neurogenic bladder, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214442021001194Test; https://doaj.org/toc/2214-4420Test
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المؤلفون: Beaman, G.M., Lopes, F.M., Hofmann, A., Roesch, W., Promm, M., Bijlsma, E.K., Patel, C., Akinci, A., Burgu, B., Knijnenburg, J., Ho, G., Aufschlaeger, C., Dathe, S., Voelckel, M.A., Cohen, M., Yue, W.W., Stuart, H.M., Mckenzie, E.A., Elvin, M., Roberts, N.A., Woolf, A.S., Newman, W.G.
المصدر: Frontiers in Genetics, 13. FRONTIERS MEDIA SA
مصطلحات موضوعية: missense, urofacial, HPSE2, LRIG2, Genetics, rare disease, Molecular Medicine, heparanase-2, Ochoa syndrome, triplication, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eb70b95d68b1ba43c89427a453b7a2bTest
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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 -
7صورة
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 -
8دورية أكاديمية
المؤلفون: I Ganesan, T Thomas, Case Report
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: KEY WORDS, Abnormal facial expressions, Neurogenic bladder, Ochoa syndrome BACKGROUND
وصف الملف: application/pdf
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المؤلفون: Bruna Cecilia Neves de Carvalho, Sabrina Tristão Longo, Carolina Talini, Naiane Mayer, Letícia Alves Antunes, Antonio Carlos Moreira Amarante
المصدر: Pediatric Urology Case Reports, Vol 3, Iss 4, Pp 121-127 (2016)
Pediatric Urology Case Reports; Vol 3, No 4 (2016): Jul-Aug; 121-127مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, urofacial syndrome, medicine.drug_class, Urinary system, medicine.medical_treatment, 030232 urology & nephrology, Ochoa Syndrome, nonneurogenic neurogenic bladder, HPSE2, LRIG2, Disease, lcsh:RC870-923, 03 medical and health sciences, 0302 clinical medicine, medicine, Anticholinergic, Obstructive uropathy, business.industry, Urofacial syndrome, Urinary diversion, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, Surgery, Late diagnosis, Bladder augmentation, 030220 oncology & carcinogenesis, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf34b9fbd361bf2dd9d71169b84d6b56Test
http://pediatricurologycasereports.com/ojs/index.php/pucr/article/view/163/88Test -
10دورية أكاديمية
المؤلفون: Alova,I., Lottmann,H. B.
المصدر: Archivos Españoles de UrologÃa (Ed. impresa) v.61 n.2 2008
مصطلحات موضوعية: Vesicoureteral reflux, Dysfunctional voiding, Bladder sphincter dyssynergia, Neuropathic bladder, Eimination disorders, Hinman syndrome, Ochoa syndrome, Clean intermittent catheterization
وصف الملف: text/html