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1دورية أكاديمية
المؤلفون: Hanadi Bakhsh, Norah Alqntash, Ebtesam Almajed
المصدر: Life, Vol 13, Iss 10, p 2022 (2023)
مصطلحات موضوعية: Woodhouse–Sakati syndrome (WSS), primary amenorrhea, alopecia, hormonal replacement therapy (HRT), Science
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: Woodhouse–Sakati syndrome, diabetes, intellectual disability, alopecia, hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.856002/fullTest; https://doaj.org/toc/1664-2392Test
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3دورية أكاديمية
المؤلفون: Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: Woodhouse–Sakati syndrome, diabetes, intellectual disability, alopecia, hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.770871/fullTest; https://doaj.org/toc/1664-2392Test
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4دورية أكاديمية
المؤلفون: Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Houdi Zhou
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: diabetes mellitus, hypogonadism, alopecia, woodhouse-Sakati syndrome, DCAF17, deletion mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.741323/fullTest; https://doaj.org/toc/1664-8021Test
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5
المؤلفون: Fozia Fozia, Khadim Shah, Rubina Nazli, Sher Alam Khan, Ijaz Ahmad, Noor Mohammad, Saadullah Khan, Amal Alotaibi
المصدر: Journal of Clinical Laboratory Analysis
مصطلحات موضوعية: Male, Microbiology (medical), Adolescent, DNA Mutational Analysis, Clinical Biochemistry, Consanguinity, Woodhouse‐Sakati syndrome, Basal Ganglia Diseases, Intellectual Disability, Diabetes Mellitus, Humans, Protein Isoforms, Immunology and Allergy, Child, Research Articles, Scalp, Hypogonadism, Biochemistry (medical), Public Health, Environmental and Occupational Health, Facies, Nuclear Proteins, Ubiquitin-Protein Ligase Complexes, Alopecia, Arrhythmias, Cardiac, WSS, Hematology, Pedigree, Medical Laboratory Technology, splicing‐site variant, Mutation, Female, DCAF17, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db2f7f70f1091c63cbaf17caa570cb4Test
https://doi.org/10.1002/jcla.24127Test -
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المؤلفون: Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, Woodhouse–Sakati syndrome, diabetes, intellectual disability, alopecia, hypogonadism
الإتاحة: https://doi.org/10.3389/fendo.2021.770871.s003Test
https://figshare.com/articles/dataset/Table_1_Case_Report_A_Chinese_Family_of_Woodhouse-Sakati_Syndrome_With_Diabetes_Mellitus_With_a_Novel_Biallelic_Deletion_Mutation_of_the_DCAF17_Gene_docx/19208277Test -
7صورة
المؤلفون: Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, Woodhouse–Sakati syndrome, diabetes, intellectual disability, alopecia, hypogonadism
الإتاحة: https://doi.org/10.3389/fendo.2021.770871.s002Test
https://figshare.com/articles/figure/Image_2_Case_Report_A_Chinese_Family_of_Woodhouse-Sakati_Syndrome_With_Diabetes_Mellitus_With_a_Novel_Biallelic_Deletion_Mutation_of_the_DCAF17_Gene_png/19208274Test -
8
المؤلفون: Fowzan S. Alkuraya, Fahad S. Al-Ajlan, Ali Abusrair, Abdulaziz Alsemari, Dalya Abualsaud, Norah Alharbi, Balsam S. Bohlega, Saeed Bohlega
المصدر: Parkinsonism & Related Disorders. 69:99-103
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Activities of daily living, Adolescent, Disease, Gene mutation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, Intellectual Disability, Intellectual disability, Diabetes Mellitus, medicine, Humans, Retrospective Studies, Dystonia, business.industry, Hypogonadism, Alopecia, Arrhythmias, Cardiac, Middle Aged, Woodhouse–Sakati syndrome, medicine.disease, Phenotype, 030104 developmental biology, Neurology, Disease Progression, Female, Sensorineural hearing loss, Neurology (clinical), Nervous System Diseases, Geriatrics and Gerontology, business, Neurological impairment, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c4fccbfdeb95b0f89623be0b0aa977Test
https://doi.org/10.1016/j.parkreldis.2019.10.007Test -
9
المؤلفون: Khushnooda Ramzan, Wasim Ahmad, Khadim Shah, Abid Jan, Sulman Basit, Farooq Ahmad
المصدر: Clinical and Experimental Dermatology. 45:159-164
مصطلحات موضوعية: Adult, Male, Adolescent, Dermatology, Consanguinity, Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, Diabetes mellitus genetics, 0302 clinical medicine, Basal Ganglia Diseases, Intellectual Disability, Exome Sequencing, Diabetes Mellitus, medicine, Humans, Gene, Exome, Exome sequencing, Sequence Deletion, Sequence (medicine), Genetics, Hypogonadism, Nuclear Proteins, Ubiquitin-Protein Ligase Complexes, Alopecia, Arrhythmias, Cardiac, Woodhouse–Sakati syndrome, medicine.disease, Pedigree, Phenotype, 030220 oncology & carcinogenesis, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e57c3cbcd3ec00b54a276e2f823aca0Test
https://doi.org/10.1111/ced.14046Test -
10
المؤلفون: Mary Glenda, Mitesh Chandarana, Syam Krishnan, Ajith Cherian, Divya K P, Udit Saraf
المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 49(5)
مصطلحات موضوعية: Dystonia, Psychoanalysis, business.industry, Writer's cramp, Hypogonadism, Alopecia, Arrhythmias, Cardiac, General Medicine, Woodhouse–Sakati syndrome, medicine.disease, Neurology, Basal Ganglia Diseases, Dystonic Disorders, Intellectual Disability, Diabetes Mellitus, Medicine, Humans, Neurology (clinical), Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f24cf25297f9f64da9a5ca1e2d68b449Test
https://pubmed.ncbi.nlm.nih.gov/34425922Test