-
1دورية 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 -
2دورية أكاديمية
المؤلفون: Schuster, Georg, Honda, Riku, Diamandis, Carolina
مصطلحات موضوعية: H63D, Mutation, HFE, Gen, homozygot, heterozygot, Syndrom, Typ-2, Seltene Krankheit
العلاقة: https://zenodo.org/record/7714289Test; https://doi.org/10.5281/zenodo.7714289Test; oai:zenodo.org:7714289
الإتاحة: https://doi.org/10.5281/zenodo.7714289Test
https://doi.org/10.5281/zenodo.7714288Test
https://zenodo.org/record/7714289Test -
3تقرير
مصطلحات موضوعية: iron, H63D homozygous, mutation, HFE gene, NTBI, NTBI poisoning, transferrin saturation, false negative
العلاقة: https://zenodo.org/record/7854933Test; https://doi.org/10.5281/zenodo.7854933Test; oai:zenodo.org:7854933
الإتاحة: https://doi.org/10.5281/zenodo.7854933Test
https://doi.org/10.5281/zenodo.7854932Test
https://zenodo.org/record/7854933Test -
4دورية أكاديمية
المؤلفون: Jacobs, Adam S, Seideman, David, Honda, Riku, Papadopoulos, Anastasios, Smith, Lucas, Kaufmann, Marianne, Lazar, Marius, Diamandis, Carolina
المصدر: ZENODO openAIRE e-publishing
مصطلحات موضوعية: H63D syndrom, H63D gene, mutation, homozygous
العلاقة: https://zenodo.org/record/4784624Test; https://doi.org/10.5281/zenodo.4784624Test; oai:zenodo.org:4784624
الإتاحة: https://doi.org/10.5281/zenodo.4784624Test
https://doi.org/10.5281/zenodo.4784623Test
https://zenodo.org/record/4784624Test -
5
المؤلفون: Shirazi, Ali, Honda, Riku, Rocha Fabio, Tudor, Adrian, Ivanova, Olga, Diamandis, Carolina
مصطلحات موضوعية: Deranged Liver Function Test, GPT, GOT, Atif Nasrullah, liver, homozygous, hemochromatosis, Haris Nasrullah, HFE Gene H63D, iron, test, Naeem Ijaz, ALAT, mutation, Umar Hayat, H63D syndrome, ASAT
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ca0976983a6ac3fb74ec162764d26f3Test
-
6
المؤلفون: Smith, Lucas, Seideman, David, Diamandis, Carolina
مصطلحات موضوعية: defect, the other mutation, homozygous mutation, H63D, genetic, mutation, HFE gene, H63D syndrome, hemochromatosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa7f8785aa0cd1ca0e6bc0c8d0a5ad37Test
https://doi.org/10.22541/au.163820567.76952749/v1Test -
7
المؤلفون: Yu Wu, Ting Liu, Yan Lun, Jinjun Yang, Xiao Shuai
المصدر: Internal Medicine
مصطلحات موضوعية: Liver Cirrhosis, Male, China, Heterozygote, hereditary hemochromatosis (HH), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Iron Overload, Cirrhosis, Thalassemia, Case Report, Late onset, Intestinal absorption, 03 medical and health sciences, 0302 clinical medicine, Hepcidins, Hepcidin, hemic and lymphatic diseases, H63D heterozygous mutation, Epidemiology, Internal Medicine, medicine, Humans, Age of Onset, Hemochromatosis Protein, Hemochromatosis, Aged, biology, business.industry, beta-Thalassemia, General Medicine, medicine.disease, Pedigree, 030220 oncology & carcinogenesis, Hereditary hemochromatosis, Mutation, β-thalassemia, Immunology, biology.protein, HFE gene, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aecbf480b9fc16c0d41b44f74a9799dTest
https://doi.org/10.2169/internalmedicine.8628-16Test -
8
المؤلفون: P Dw Kiely
المصدر: The Journal of the Royal College of Physicians of Edinburgh, Vol 48, Iss 3, Pp 233-238 (2018)
مصطلحات موضوعية: 0301 basic medicine, Genotype, Cardiomyopathy, Osteoarthritis, Bioinformatics, medicine.disease_cause, Education, 03 medical and health sciences, Hepcidin, Arthropathy, medicine, Humans, H63D, Hemochromatosis Protein, lcsh:R5-920, Mutation, biology, business.industry, Cartilage, General Medicine, medicine.disease, C282Y, Phenotype, 030104 developmental biology, medicine.anatomical_structure, haemochromatosis, Joint pain, biology.protein, hepcidin, HFE, Hemochromatosis, medicine.symptom, lcsh:Medicine (General), Hepatic fibrosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4a7bcf2764bcaa2dd35675c4b7b272Test
https://doi.org/10.4997/jrcpe.2018.307Test -
9
المؤلفون: Mattias Ekstedt, Nelson Ndegwa, Iris Posserud, Hannes Hagström, Johan Askling, Per Stål, Fredrik Rorsman, Hanns-Ulrich Marschall, Nils Nyhlin, Daniel Klintman, Mårten Werner, Molly Jalmeus
المصدر: Liver international : official journal of the International Association for the Study of the LiverREFERENCES. 41(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Carcinoma, Hepatocellular, Colorectal cancer, Population, Gastroenterology and Hepatology, hemochromatosis, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Gastroenterologi, Humans, Cumulative incidence, C282Y, epidemiology, H63D, prognosis, education, Hemochromatosis Protein, Hemochromatosis, Sweden, education.field_of_study, Hepatology, business.industry, Hazard ratio, Histocompatibility Antigens Class I, Liver Neoplasms, Absolute risk reduction, Cancer, medicine.disease, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Other Clinical Medicine, Mutation, Annan klinisk medicin, 030211 gastroenterology & hepatology, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc52d32b21cc848e0742d1c5c9cc0690Test
https://pubmed.ncbi.nlm.nih.gov/33450138Test -
10
المؤلفون: Mehfooz Hussain, Lubna Danish, Muhammad Ismail, Aqib Iqbal, Ruqiya Pervaiz, Fakhar Zaman, Maryam Shah, Najeeb U. Khan
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Thalassemia, Hepcidin, Mutation, Missense, 030105 genetics & heredity, Gene mutation, medicine.disease_cause, 03 medical and health sciences, Gene Frequency, Hepcidins, hemic and lymphatic diseases, HAMP, Genetics, medicine, Humans, Pakistan, H63D, Hemochromatosis Protein, Molecular Biology, Genetics (clinical), Hemochromatosis, Mutation, biology, business.industry, beta-Thalassemia, Beta thalassemia, nutritional and metabolic diseases, beta thalassemia major, Original Articles, medicine.disease, Ferritin, lcsh:Genetics, 030104 developmental biology, Ferritins, biology.protein, Original Article, Female, HFE, business, G71D
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e5983545e73cdd9672c9cdbca30816Test
http://europepmc.org/articles/PMC7507326Test