Zobrazeno 1 - 10
of 32
pro vyhledávání: '"R Hughes-Benzie"'
Autor:
G S Tint, M Seller, R Hughes-Benzie, A K Batta, S Shefer, D Genest, M Irons, E Elias, G Salen
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 1, Pp 89-95 (1995)
The Smith-Lemli-Opitz syndrome is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and failure to thrive. It is characterized biochemically by low plasma cholesterol
Externí odkaz:
https://doaj.org/article/3be91b7562424f51af9fd5be2f7a7492
Autor:
M Seller, Ellen R. Elias, Ashok K. Batta, Gerald Salen, Sarah Shefer, D Genest, R Hughes-Benzie, M Irons, G.S. Tint
Publikováno v:
Journal of Lipid Research, Vol 36, Iss 1, Pp 89-95 (1995)
The Smith-Lemli-Opitz syndrome is an autosomal recessive birth defect (frequency 1:20,000-1:40,000) that results in profound mental retardation, physical deformities, and failure to thrive. It is characterized biochemically by low plasma cholesterol
Publikováno v:
American journal of medical genetics. 83(5)
Diverse cardiac abnormalities have been reported in patients with the Simpson-Golabi-Behmel syndrome (SGBS), and it is suspected that they are related to the apparently high incidence of early death. To clarify the incidence and significance of the v
Autor:
I D, Graham, D M, Logan, R, Hughes-Benzie, W K, Evans, H, Perras, L M, McAuley, A, Laupacis, H, Stern
Publikováno v:
Cancer preventioncontrol : CPC = Preventioncontrole en cancerologie : PCC. 2(4)
To assess the public's interest in genetic testing for colon cancer susceptibility, to determine whether provision of information about the accuracy of the test or the population risk of inheriting the colon cancer gene influences interest, to determ
Aicardi-Goutieres syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4980921e990cbcf3e52c71cd0f41c6b8
https://europepmc.org/articles/PMC1051740/
https://europepmc.org/articles/PMC1051740/
Publikováno v:
Obstetrics and gynecology. 80(3 Pt 1)
To establish nomograms of fetal ear measurements. Newborns with trisomies have smaller ears than the normal population. This observation led us to believe that ear measurements might be useful in the antenatal prediction of fetuses with abnormal kary
Publikováno v:
Archives of Disease in Childhood. 69:470-470
Autor:
R Hughes-Benzie, Ana María Tello, Cristina Galoppo, Pedro Silberman, Pablo Lapunzina, I Badia, J Grichener, E De Matteo
Publikováno v:
Scopus-Elsevier
Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729078414e82433a2fff2e71d4d077e7
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031982161&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031982161&partnerID=MN8TOARS
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