Zobrazeno 1 - 10
of 67
pro vyhledávání: '"genetic panel"'
Publikováno v:
Ожирение и метаболизм, Vol 21, Iss 2, Pp 136-150 (2024)
BACKGROUND: Recent clinical descriptions have shown that in adult patients, the cause of nondiabetic hypoglycemia (NDH) may be various genetically determined disorders of glucose metabolism or insulin synthesis/bioavailability. In this connection, in
Externí odkaz:
https://doaj.org/article/82cfad1378454f13a965b51d69eabf4b
Autor:
Ricardo Gamboa, Maria Elena Soto
Publikováno v:
Biomolecules & Biomedicine (2024)
Dear Editor, In relation to the letter expressing concerns about some important points of the article entitled “The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome
Externí odkaz:
https://doaj.org/article/0e9d2d2e031c4fefadaff95bc588cce6
Publikováno v:
Biomolecules & Biomedicine (2024)
Dear Editor, We have read the article “The usefulness of the genetic panel in the classification and refinement of diagnostic accuracy of Mexican patients with Marfan syndrome and other connective tissue disorders”, recently published in your e
Externí odkaz:
https://doaj.org/article/46c1e53742eb4d09a1a97ae39916f7dd
Publikováno v:
Biomedicines, Vol 12, Iss 7, p 1427 (2024)
Genetic factors contribute significantly to congenital hearing loss, with non-syndromic cases being more prevalent and genetically heterogeneous. Currently, 150 genes have been associated with non-syndromic hearing loss, and their identification has
Externí odkaz:
https://doaj.org/article/797236a92f2c4d359a058481f010e3b1
Akademický článek
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Autor:
Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations inc
Externí odkaz:
https://doaj.org/article/ec0418864d154a54a64a749b4eca1e68
Akademický článek
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Akademický článek
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Publikováno v:
Respirology Case Reports, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract An 83‐year‐old woman presented with dyspnoea. Her chest X‐ray showed a right‐sided pleural effusion. Flex‐rigid pleuroscopy was performed and showed a mass in the anterior portion. The mass was biopsied with conventional biopsy for
Externí odkaz:
https://doaj.org/article/73013ea43e1841c2b03d6b7316a0b10d
Autor:
Brianna J Buseman, Gordon K Murdoch, James A Nasados, Jessica M Lancaster, Jessie B Van Buren, Michael Colle, Phillip Bass, Tanya M Weber
Publikováno v:
Meat and Muscle Biology, Vol 4, Iss 1 (2020)
Genetic panel use as a selection tool has grown in popularity in the beef industry. The objective of the study was to determine whether beef cattle genetically selected for tenderness generated a tender product. Igenity® (IT) panel results were prov
Externí odkaz:
https://doaj.org/article/d5fd7d3e1d554df8a52c5e9ec918ff68