Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Callum J. Wilson"'
Publikováno v:
Southern Medical Journal. 93:1197-1200
Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be1dca73d3ee763708f92d09b66df1e2
https://doi.org/10.1097/00007611-200012000-00011
https://doi.org/10.1097/00007611-200012000-00011
Publikováno v:
Southern Medical Journal. 93:1197-1200
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4732832ffa8d9c9c7e9e0f83e750cf4
https://doi.org/10.1097/00007611-200093120-00011
https://doi.org/10.1097/00007611-200093120-00011
Publikováno v:
Ophthalmic genetics. 33(4)
Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f02d5e796835c362e63d015fefddc24
https://pubmed.ncbi.nlm.nih.gov/22950450
https://pubmed.ncbi.nlm.nih.gov/22950450
Publikováno v:
The Medical journal of Australia. 194(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02d7f83e04c72bbd66f6f7b5a93b140b
https://pubmed.ncbi.nlm.nih.gov/21299491
https://pubmed.ncbi.nlm.nih.gov/21299491
Publikováno v:
Human genetics. 121(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd376b80d176a2368e934ffd0817c9f0
https://pubmed.ncbi.nlm.nih.gov/17879433
https://pubmed.ncbi.nlm.nih.gov/17879433
Autor:
E. Regula Baumgartner, Michael Myer, Denise M. Kirby, Thorsten Stanley, Brian A. Darlow, Glen Thomson, David R. Thorburn, Callum J. Wilson
Publikováno v:
The Journal of pediatrics. 147(1)
We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cce875ffcfd101803fbf1a3a8e15014
https://pubmed.ncbi.nlm.nih.gov/16027709
https://pubmed.ncbi.nlm.nih.gov/16027709
Autor:
Callum J, Wilson
Publikováno v:
The New Zealand medical journal. 115(1152)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::696b77cded2ae7d3d8a0c5b3ec1625f5
https://pubmed.ncbi.nlm.nih.gov/12044003
https://pubmed.ncbi.nlm.nih.gov/12044003
Autor:
Alistair T. Pagnamenta, Jan-Willem Taanman, Callum J. Wilson, Neil E. Anderson, Rosetta Marotta, Andrew J. Duncan, Maria Bitner- Glindzicz, Robert W. Taylor, Adrienne Laskowski, David R. Thorburn, Shamima Rahman
Publikováno v:
Human Reproduction; Oct2006, Vol. 21 Issue 10, p2467-2473, 7p
Publikováno v:
Annals of Neurology; Jul2005, Vol. 58 Issue 1, p160-163, 4p
Autor:
Callum J. Wilson, Claudio Priore Oliva, Franco Maggi, Alberico L. Catapano, Sebastiano Calandra
Publikováno v:
Annals of Neurology; Jun2003, Vol. 53 Issue 6, p807-810, 4p