Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Heritable disorder"'
Publikováno v:
European Journal of Epidemiology, 1999 Aug 01. 15(7), 681-684.
Externí odkaz:
https://www.jstor.org/stable/3582142
Publikováno v:
Brazilian Journal of Anesthesiology, Vol 70, Iss 3, Pp 299-301 (2020)
Revista Brasileira de Anestesiologia, Vol 70, Iss 3, Pp 299-301 (2020)
Revista Brasileira de Anestesiologia, Vol 70, Iss 3, Pp 299-301 (2020)
Crisponi syndrome is a rare and severe heritable disorder characterised by muscle contractions, trismus, apnea, feeding troubles, and unexplained high fever spikes with multiple organ failure. Here we report perioperative care for endoscopic gastrost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd14da1a5f04891c6dd9f6fba6a9ea3e
http://www.sciencedirect.com/science/article/pii/S010400142030052X
http://www.sciencedirect.com/science/article/pii/S010400142030052X
Autor:
Moh'D.A. Al-Ghazo, Yaman A. Altal, Mustafa A. Al-Shehabat, Omar F. Altal, Omar M. Halalsheh, Ibrahim F. Al-Ghalayini, Radwan Al-Okour
Publikováno v:
Annals of Medicine and Surgery
Background Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f47cb1472614aaa94cc73bc2531c1f
http://europepmc.org/articles/PMC7930589
http://europepmc.org/articles/PMC7930589
Publikováno v:
Brain Sciences
Brain Sciences, Vol 11, Iss 151, p 151 (2021)
Brain Sciences, Vol 11, Iss 151, p 151 (2021)
Autism Spectrum Disorder (ASD) is a complex highly heritable disorder, in which multiple environmental factors interact with the genes to increase its risk and lead to variable clinical presentations and outcomes. Furthermore, the inherent fundamenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866b83153c1f21d018fbdd39f8730717
http://europepmc.org/articles/PMC7911370
http://europepmc.org/articles/PMC7911370
Autor:
Michelle Lucas, Dinesha Himali Sudusinghe, Chathurika Beligaswatta, Dilushi Wijayaratne, William L Nyhan, Nalaka Gunawansa
Publikováno v:
Archives of Clinical Nephrology. :026-028
Lesch-Nyhan disease is a heritable disorder of purine metabolism. Inheritance is X-linked and the disease occurs almost exclusively in males.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3a1e2772971e45697d3f697064fb43a
https://doi.org/10.17352/acn.000034
https://doi.org/10.17352/acn.000034
Autor:
Galina Pungerčič
Publikováno v:
Zdravniški Vestnik, Vol 74, Iss 5 (2005)
Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with
Externí odkaz:
https://doaj.org/article/6171ec75dc3145d49a80bc4f462e8c4d
Autor:
Rajesh Sagar, Pawan Sharma
Publikováno v:
Asian Journal of Psychiatry. 30:225-229
Dyslexia also known as specific reading disorder is a complex heritable disorder with unexpected difficulty in learning to read and spell despite adequate intelligence, education, environment, and normal senses. Over past decades, researchers have at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a589c1a84e22c56d3a49dc1111d9c5d
https://doi.org/10.1016/j.ajp.2017.06.006
https://doi.org/10.1016/j.ajp.2017.06.006
Autor:
Thierry Carrel, Florian S. Schoenhoff
Publikováno v:
Surgical Management of Aortic Pathology ISBN: 9783709148723
Over the past decade, the medical community has slowly accepted the idea that patients presenting with aortic aneurysms and dissections are part of a wide spectrum of genetically mediated diseases that present in syndromic as well as non-syndromic fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71a385bf0e1b7c740907c9a8c293b547
https://doi.org/10.1007/978-3-7091-4874-7_40
https://doi.org/10.1007/978-3-7091-4874-7_40
Akademický článek
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Autor:
Barry London, Christopher Newton-Cheh, Sekar Kathiresan, Seung Hoan Choi, Dan M. Roden, Mary E. Haas, J. Gustav Smith, Quinn S. Wells, Lu-Chen Weng, Steven A. Lubitz, Patrick T. Ellinor, Rebecca T. Levinson, M. Benjamin Shoemaker, Mark Chaffin, Krishna G. Aragam, Gregory McDermott, Mark E. Lindsay
Publikováno v:
Circulation
Background: Heart failure (HF) is a morbid and heritable disorder for which the biological mechanisms are incompletely understood. We therefore examined genetic associations with HF in a large national biobank, and assessed whether refined phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7440106f4f6a8d4627f26f080ec3c525
https://europepmc.org/articles/PMC6511334/
https://europepmc.org/articles/PMC6511334/