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

URL الوصول: https://doaj.org/article/045fb9851fc5441092bef97e2e4fc97e

المؤلفون: Wakim, Victor^{Aff1, Aff2, IDs4416202400045y_cor1}, Dassouki, Mohammad El, Azar, Ahlam, Hani, Abeer^{Aff2, Aff3}, Mehawej, Cybel, Chouery, Eliane, Baroudi, Marie-Jeanne, Wakim, Gerard

المصدر: Journal of Rare Diseases. 3(1)

المؤلفون: Kohil, Amira, Abdallah, Atiyeh M., Hussain, Khalid, Al-Shafai, Mashael^{Aff1, IDs13023023026148_cor4}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

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

URL الوصول: https://doaj.org/article/c59195c9ac824bd5999593e594402a7e

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.741323/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b961f25fee0e4e9dad66693c08d7602c

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db2f7f70f1091c63cbaf17caa570cb4
https://doi.org/10.1002/jcla.24127

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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