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1دورية أكاديمية
المؤلفون: Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, Cybel Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim
المصدر: Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Woodhouse-Sakati syndrome, Intra-familial variability, Rare disease, DCAF17, Specialties of internal medicine, RC581-951
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2731-085X
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2دورية أكاديمية
المؤلفون: Wakim, VictorAff1, Aff2, IDs4416202400045y_cor1, Dassouki, Mohammad El, Azar, Ahlam, Hani, AbeerAff2, Aff3, Mehawej, Cybel, Chouery, Eliane, Baroudi, Marie-Jeanne, Wakim, Gerard
المصدر: Journal of Rare Diseases. 3(1)
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3دورية أكاديمية
المؤلفون: Kohil, Amira, Abdallah, Atiyeh M., Hussain, Khalid, Al-Shafai, MashaelAff1, IDs13023023026148_cor4
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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4دورية أكاديمية
المؤلفون: Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Woodhouse-Sakati, Variants, DCAF17, Arabs, Middle East, Consanguinity, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية 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
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6
المؤلفون: Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock
المصدر: EBioMedicine 77, 103869 (2022). doi:10.1016/j.ebiom.2022.103869
EBioMedicine 77:103869 (2022)
EBioMedicine, Vol 77, Iss, Pp 103869-(2022)مصطلحات موضوعية: DCAF17 protein, human, Medicine (General), genetics [Iron Metabolism Disorders], PLAN, PKAN, Neuroaxonal Dystrophies, epidemiology [Neuroaxonal Dystrophies], General Biochemistry, Genetics and Molecular Biology, genetics [Neuroaxonal Dystrophies], Mitochondrial Proteins, R5-920, pathology [Neuroaxonal Dystrophies], pathology [Brain], Databases, Genetic, Humans, Autosomal recessive NBIA disorders, CoPAN, ddc:610, Neurodegeneration, Child, C19orf12 protein, human, Autosomal Recessive Nbia Disorders, Copan, Lifetime Risk, Pkan, Plan, Calcium-Binding Proteins, pathology [Neurodegenerative Diseases], Brain, Nuclear Proteins, Ubiquitin-Protein Ligase Complexes, Neurodegenerative Diseases, General Medicine, Iron Metabolism Disorders, Lifetime risk, REPS1 protein, human, genetics [Neurodegenerative Diseases], pathology [Iron Metabolism Disorders], Medicine, genetics [Mitochondrial Proteins], epidemiology [Neurodegenerative Diseases]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c582c79e062a09eafa866e0479ccdb
https://pub.dzne.de/record/163460 -
7
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
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8دورية أكاديمية
المؤلفون: Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.
المصدر: Journal of Endocrinological Investigation. January 2014 37(1):1-7
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9دورية أكاديمية
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تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.