Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Metabolomics Meets Clinics: A Multivariate Analysis of Plasma and Urine Metabolic Signatures in Pulmonary Arterial Hypertension.
J Proteome Res. 2023 Oct 12. doi: 10.1021/acs.jproteome.3c00255. Online ahead of print.
J Proteome Res. 2023.
PMID: 37827514
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, FitzPatrick DR.
Rainger J, et al. Among authors: furga as.
PLoS Genet. 2018 Dec 26;14(12):e1007866. doi: 10.1371/journal.pgen.1007866. eCollection 2018 Dec.
PLoS Genet. 2018.
PMID: 30586382
Free PMC article.
Item in Clipboard
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR.
Rainger J, et al. Among authors: furga as.
PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7.
PLoS Genet. 2011.
PMID: 21750680
Free PMC article.
Item in Clipboard
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.
Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F.
Bedeschi MF, et al. Among authors: furga as.
Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7.
Orphanet J Rare Dis. 2011.
PMID: 21356074
Free PMC article.
Item in Clipboard
Cite
Cite