-
1دورية أكاديمية
المصدر: Journal of Applied Hematology, Vol 15, Iss 1, Pp 55-61 (2024)
مصطلحات موضوعية: beta-thalassemia major, cardiac complication, growth differentiation factor-15, h63d, hfe, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: http://www.jahjournal.org/article.asp?issn=1658-5127;year=2024;volume=15;issue=1;spage=55;epage=61;aulast=HamzaTest; https://doaj.org/toc/1658-5127Test
-
2دورية أكاديمية
المؤلفون: Carolina Diamandis, Boris Strelkov, Sandra Steinberg, Riku Honda
مصطلحات موضوعية: Cardiology (incl. cardiovascular diseases), Endocrinology, Gastroenterology and hepatology, Neurology and neuromuscular diseases, Clinical neuropsychology, Oshtoran Syndrome, H63D Syndrome, Research report, Preliminary data
الإتاحة: https://doi.org/10.6084/m9.figshare.24990276.v1Test
https://figshare.com/articles/online_resource/Oshtoran_Syndrome_H63D_Syndrome_Type_3_-_status_report/24990276Test -
3دورية أكاديمية
المؤلفون: Carolina Diamandis, Simon Nathan, Hamid Salari
مصطلحات موضوعية: Endocrinology, Psychiatry (incl. psychotherapy), Oshtoran Syndrome, H63D Syndrome, OCD, obsessive compulsive and related disorders, Obsessive Compulsive Disorder (OCD)
الإتاحة: https://doi.org/10.6084/m9.figshare.25140137.v1Test
https://figshare.com/articles/journal_contribution/_i_Preliminary_Report_i_-_Complete_Remission_of_Obsessive_Thoughts_in_H63D_Syndrome_Type-3_Oshtoran_Syndrome_Patients_Following_Corticosteroid_Therapy/25140137Test -
4دورية أكاديمية
المؤلفون: Oliva, Rafael, Novials, Anna, Sánchez, Mayka, Villa, Marga, Ingelmo, Mercedes, Recasens, Mónica, Ascaso, Carlos, Bruguera, Miquel, Gomis, Ramón
مصطلحات موضوعية: Diabetis, HFE, C282Y, H63D, Nefropatia, Retinopatia, Diabetes, Nefropatía, Retinopatía, Nephropathy, Retinopathy
الوقت: 61
العلاقة: Endocrine; 24; Oliva, Rafael; Novials, Anna; Sánchez, Mayka [et al.]. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. Endocrine, 2004, 24, p. 111-114. Disponible en: . Fecha de acceso: 31 ene. 2024. DOI:10.1385/ENDO:24:2:111; http://hdl.handle.net/20.500.12328/3998Test; https://dx.doi.org/10.1385/ENDO:24:2:111Test
الإتاحة: https://doi.org/20.500.12328/3998Test
https://doi.org/10.1385/ENDO:24:2:111Test
https://hdl.handle.net/20.500.12328/3998Test -
5رسالة جامعية
المؤلفون: Sánchez Fernández, María Carmen
المساهمون: University/Department: Universitat de Barcelona. Departament de Genètica
مرشدي الرسالة: Oliva Virgili, Rafael, Balcells Comas, Susana
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: C282Y, H63D, Gen HFE, Hemocromatosi, Ciències Experimentals i Matemàtiques
وصف الملف: application/pdf
-
6
المؤلفون: Hagström, Hannes, Ndegwa, Nelson, Jalmeus, Molly, Ekstedt, Mattias, Posserud, Iris, Rorsman, Fredrik, Nyhlin, Nils, 1971, Klintman, Daniel, Werner, Mårten, Marschall, Hanns-Ulrich, Askling, Johan, Stål, Per
المصدر: Liver international (Print). 43(3):545-553
مصطلحات موضوعية: C282Y, H63D, epidemiology, hemochromatosis, prognosis
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-88542Test
https://doi.org/10.1111/liv.14792Test -
7دورية أكاديمية
المؤلفون: Shirazi, Ali, Honda, Riku, Rocha, Fabio, Ivanova, Olga, Balaskas, Alexandros, Adams, Jacobs S, Abbas, Mohammad, Wagner, Caroline, Seideman, David, Hausmann, Karin, Kaufmann, Marianne, Heil, Martin, Strelkov, Boris, Samaras, Efstathia, Walter, Karin, Williams, Joshua, Freudig, Alexander, Lazar, Marius, Diamandis, Carolina
المصدر: ZENODO openAIRE June 2023
مصطلحات موضوعية: H63D Syndrome, HFE, gene, homozygous, H63D homozygous, NTBI, non-transferrin bound iron, syndrome, storage disorder
العلاقة: https://zenodo.org/record/7998160Test; https://doi.org/10.5281/zenodo.7998160Test; oai:zenodo.org:7998160
الإتاحة: https://doi.org/10.5281/zenodo.7998160Test
https://doi.org/10.5281/zenodo.7998159Test
https://zenodo.org/record/7998160Test -
8دورية أكاديمية
المؤلفون: Ivanova, Olga, Lazar, Marius, Bartels, Alexander, Shirazi, Ali, Honda, Riku, Adams, Jacob, Feldman, Jonathan, Kaufmann, Marianne, Olson, Sven, Tudor, Adrian, Diamandis, Carolina
مصطلحات موضوعية: H63D, syndrome, mutation, homozygous, H63D syndrome type-2, H63D syndrome type-1
العلاقة: https://zenodo.org/record/7665131Test; https://doi.org/10.5281/zenodo.7665131Test; oai:zenodo.org:7665131
الإتاحة: https://doi.org/10.5281/zenodo.7665131Test
https://doi.org/10.5281/zenodo.7665130Test
https://zenodo.org/record/7665131Test -
9دورية أكاديمية
المؤلفون: Shirazi, Ali, Honda, Riku, Rocha, Fabio, Bartels, Alexander, Diamandis, Carolina
المصدر: ZENODO openAIRE continuous e-publishing
مصطلحات موضوعية: H63D mutation, H63D homozygous, H63D Syndrome Type-2, HFE gene, iron metabolism, micro-inflammation, neuropsychiatric issues, organ damage, athralgia
العلاقة: https://zenodo.org/record/7750928Test; https://doi.org/10.5281/zenodo.7750928Test; oai:zenodo.org:7750928
الإتاحة: https://doi.org/10.5281/zenodo.7750928Test
https://doi.org/10.5281/zenodo.7750927Test
https://zenodo.org/record/7750928Test -
10دورية أكاديميةThe Imperative of Publishing Data on Rare Diseases like PANS-H63D-Multisystemic Instability Syndrome
المؤلفون: H63D, Research Consortium
المصدر: openAire 09/23(ePub)
مصطلحات موضوعية: PANS-H63D instability syndrome, H63D syndrome, PANS syndrom, PANDAS, meta-syndrome, H63D mutation, mitochondriopathies, dysautonomia, katecholmines
العلاقة: https://zenodo.org/record/8311693Test; https://doi.org/10.5281/zenodo.8311693Test; oai:zenodo.org:8311693
الإتاحة: https://doi.org/10.5281/zenodo.8311693Test
https://doi.org/10.5281/zenodo.8311692Test
https://zenodo.org/record/8311693Test
