Zobrazeno 1 - 10
of 126
pro vyhledávání: '"single gene mutation"'
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Paraganglioma is a less prevalent disease, and paraganglioma with only secreting interleukin-6 (IL-6) has not been previously reported. A 64-year-old male patient came to the hospital with the chief complaints of fever and palpitations. The peak body
Externí odkaz:
https://doaj.org/article/b194c774f6f24a5389401dc3de06ee60
Publikováno v:
Clinical Case Reports, Vol 11, Iss 5, Pp n/a-n/a (2023)
Key Clinical Message Multiple genetic disorders can coexist in one patient. When the phenotype is not fully explained with one diagnosis, it is recommended to perform further genetic investigations in search for coexisting second diagnosis. Abstract
Externí odkaz:
https://doaj.org/article/6cb808d2a81846b491d772aa04e3702e
Publikováno v:
Philosophical Transactions: Biological Sciences, 2000 Jul . 355(1399), 939-944.
Externí odkaz:
https://www.jstor.org/stable/3066821
Publikováno v:
Egyptian Dental Journal. 67:3279-3289
Introduction: Recently genes act as hereditary blueprints of humans in our modern evidence-based dentistry era, Genomic wide association studies (GWAS) have investigated genetic and environmental factors which are considered instruments in genesis of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0462e993023b74f8509efca8e397f1fc
https://doi.org/10.21608/edj.2021.91148.1757
https://doi.org/10.21608/edj.2021.91148.1757
Autor:
Ritsuko K Pooh
Publikováno v:
Donald School Journal of Ultrasound in Obstetrics and Gynecology. 15:229-239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15eb29f9c4485b3a7eec3968047d06e3
https://doi.org/10.5005/jp-journals-10009-1718
https://doi.org/10.5005/jp-journals-10009-1718
Autor:
Stephen H Embury, Nicola Conran
Publikováno v:
Exp Biol Med (Maywood)
The pathophysiology of sickle cell anemia, a hereditary hemoglobinopathy, has fascinated clinicians and scientists alike since its description over 100 years ago. A single gene mutation in the HBB gene results in the production of abnormal hemoglobin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecea084aed99b213aeefb7f16109e8a2
https://doi.org/10.1177/15353702211005392
https://doi.org/10.1177/15353702211005392
Akademický článek
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Publikováno v:
Donald School Journal of Ultrasound in Obstetrics and Gynecology. 14:125-130
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0399481b253415836c3d62261e274fd
https://doi.org/10.5005/jp-journals-10009-1643
https://doi.org/10.5005/jp-journals-10009-1643
Akademický článek
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Publikováno v:
Schweiz Arch Tierheilkd. 161:677-688
Contracture of the flexor tendons (CFT) is very common in calves and it is usually diagnosed within the first few days after birth (congenital flexural deformity). However, CFT can appear even in older calves caused by chronic pain. The aetiology of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c008154e49ee6ade9fd4341f13a6ad58
https://doi.org/10.17236/sat00230
https://doi.org/10.17236/sat00230