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2020 | 1 |
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Page 1
Lung artefacts and their use.
Med Ultrason. 2016 Dec 5;18(4):488-499. doi: 10.11152/mu-878.
Med Ultrason. 2016.
PMID: 27981283
Free article.
Review.
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.
Amlie-Wolf L, Moyer-Harasink S, Carr AM, Giampietro P, Schneider A, Simon M.
Amlie-Wolf L, et al.
Am J Med Genet A. 2020 Apr;182(4):798-803. doi: 10.1002/ajmg.a.61465. Epub 2020 Jan 5.
Am J Med Genet A. 2020.
PMID: 31903681
Steel in 1993 in Puerto Rico, at which time he described the clinical findings required for diagnosis. The responsible gene, COL27A1, was identified in 2015 (Gonzaga-Jauregui et al., European Journal of Human Genetics, 2015;23:342-346). ...We describe three more patients i …
Steel in 1993 in Puerto Rico, at which time he described the clinical findings required for diagnosis. The responsible gene, COL27A1, was id …
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