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Year | Number of Results |
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2016 | 1 |
2018 | 1 |
2021 | 2 |
2024 | 0 |
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Page 1
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11.
J Clin Invest. 2016.
PMID: 27400125
Free PMC article.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P.
Martin-Almedina S, et al.
Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16.
Genet Med. 2021.
PMID: 33864021
Free PMC article.
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Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P.
Martin-Almedina S, et al.
Genet Med. 2021 Jul;23(7):1376-1377. doi: 10.1038/s41436-021-01202-0.
Genet Med. 2021.
PMID: 34040196
Free PMC article.
No abstract available.
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A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
Nadarajah N, Schulte D, McConnell V, Martin-Almedina S, Karapouliou C, Mortimer PS, Jeffery S, Schulte-Merker S, Gordon K, Mansour S, Ostergaard P.
Nadarajah N, et al.
Int J Mol Sci. 2018 Aug 1;19(8):2259. doi: 10.3390/ijms19082259.
Int J Mol Sci. 2018.
PMID: 30071673
Free PMC article.
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