المؤلفون: Nahid Rezaie, Nader Mansour Samaei, Ayda Ghorbani, Naghmeh Gholipour, Shohreh Vosough, Mahboobeh Rafigh, Abolfazl Amini

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: H syndrome, SLC29A3 gene, Novel mutation, Hyperpigmentation, Whole-exome sequencing, Iran, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/309defaaceb94771810f99783817504eTest

المؤلفون: Nosrat Ghaemi, Sara Shirdelzadeh, Mahdieh Vahedi, Samaneh Noroozi Asl, Sepideh Bagheri

المصدر: Journal of Clinical and Translational Endocrinology Case Reports, Vol 32, Iss , Pp 100165- (2024)

مصطلحات موضوعية: H syndrome, Infantile diabetes, Hypertrichosis, Hyperpigmentation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214624524000042Test; https://doaj.org/toc/2214-6245Test

الوصول الحر: https://doaj.org/article/bd58fb78a4374c94afb50a29476d80a9Test

المؤلفون: Alessandra Tesser, Erica Valencic, Valentina Boz, Gianluca Tornese, Serena Pastore, Manuela Zanatta, Alberto Tommasini

المصدر: Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: SLC29A3, H syndrome, Interferon, Arthritis, JAK inhibitors, Hydroxychloroquine, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1546-0096Test

الوصول الحر: https://doaj.org/article/8ed523cb52164d51b3a29e8acf5b2f6fTest

المؤلفون: Suaad Hamsho, Mohammed Alaswad, Mouhammed Sleiay, Ayham Alhusseini

المصدر: BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Hyperglycemia, H syndrome, Hypogonadism, Hyperpigmentation, Growth hormone deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1472-6823Test

الوصول الحر: https://doaj.org/article/bf28dc98dc03453ba72012311bd43396Test

المؤلفون: Tesser, Alessandra, Valencic, Erica, Boz, Valentina, Tornese, Gianluca, Pastore, Serena, Zanatta, Manuela, Tommasini, Alberto

المساهمون: Tesser, Alessandra, Valencic, Erica, Boz, Valentina, Tornese, Gianluca, Pastore, Serena, Zanatta, Manuela, Tommasini, Alberto

مصطلحات موضوعية: Arthriti, H syndrome, Hydroxychloroquine, Interferon, JAK inhibitor, SLC29A3

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38263041; info:eu-repo/semantics/altIdentifier/wos/WOS:001147741300001; volume:22; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:6; journal:PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL; https://hdl.handle.net/11368/3067884Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85182807773; https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-023-00950-4Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807099Test/

الإتاحة: https://doi.org/10.1186/s12969-023-00950-4Test
https://hdl.handle.net/11368/3067884Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807099Test/

المؤلفون: Robin Jacquot, Maurine Jouret, Mathieu Gerfaud Valentin, Maël Richard, Yvan Jamilloux, Florent Rousset, Jean-François Emile, Julien Haroche, Lars Steinmüller, Franck Zekre, Alice Phan, Alexandre Belot, Pascal Seve

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: H syndrome, SLC29A3, tocilizumab, monogenic autoinflammatory disease, hyperpigmentation, recurrent febrile attacks, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1061182/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/2cac38a4c3bb4e77afbf34368aeb7c5aTest

المؤلفون: Nabaa Ihsan Awadh, Faiq I. Gorial, Hashim Talib Hashim, Ahmed Dheyaa Al‐Obaidi, Mustafa Najah Al‐Obaidi, Ali H. AlNoori, Wesal K. Aljanabi

المصدر: Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)

مصطلحات موضوعية: clubbing, deafness, deformities, H syndrome, hyperpigmentation, tocilizumab, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/570a5ce80ba74fbcaf52ea30f5118eacTest

المؤلفون: Kimia Saleh Anaraki, Sepehr Khosravi, Elham Behrangi, Afsaneh Sadeghzadeh-Bazargan, Azadeh Goodarzi

المصدر: Journal of Family Medicine and Primary Care, Vol 11, Iss 3, Pp 857-860 (2022)

مصطلحات موضوعية: clinical presentations, cutaneous presentations, h syndrome, systemic presentations, treatment, therapy, Medicine

وصف الملف: electronic resource

العلاقة: http://www.jfmpc.com/article.asp?issn=2249-4863;year=2022;volume=11;issue=3;spage=857;epage=860;aulast=AnarakiTest; https://doaj.org/toc/2249-4863Test

الوصول الحر: https://doaj.org/article/6442e816349b480c864dc56852f31c30Test

المؤلفون: Diala Hussein, Büşra Altın, Münir Demir Bajin

المصدر: The Egyptian Journal of Otolaryngology, Vol 37, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: H syndrome, Sensorineural hearing loss, Genetic hearing loss, Case report, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1012-5574Test; https://doaj.org/toc/2090-8539Test

الوصول الحر: https://doaj.org/article/1eeb8231cc54408baae4b892a3718c38Test

المؤلفون: Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida, Mohamed Denguezli

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: SLC29A3 gene, H syndrome, Rosai–Dorfman disease, Histiocytosis, Genodermatosis, hENT3, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/1f39f673352940a4b7b04d8a74f1f9beTest