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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1998 | 1 |
2001 | 1 |
2005 | 1 |
2010 | 1 |
2011 | 1 |
2017 | 1 |
2018 | 1 |
2022 | 1 |
2024 | 0 |
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Page 1
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.
Am J Med Genet A. 2022.
PMID: 35904974
Free PMC article.
Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OWJ.
Vasudevan PC, et al. Among authors: shannon nl.
Clin Dysmorphol. 2005 Jul;14(3):109-116.
Clin Dysmorphol. 2005.
PMID: 15930898
Review.
Item in Clipboard
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium; Dobyns WB, Baas F, Poll-The BT.
Namavar Y, et al.
Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.
Brain. 2011.
PMID: 20952379
Free PMC article.
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A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.
Giunta C, et al. Among authors: shannon nl.
Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.
Genet Med. 2018.
PMID: 28617417
Free PMC article.
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An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality.
Shannon NL, Maltby EL, Rigby AS, Quarrell OW.
Shannon NL, et al.
J Med Genet. 2001 Oct;38(10):674-9. doi: 10.1136/jmg.38.10.674.
J Med Genet. 2001.
PMID: 11584045
Free PMC article.
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Prenatal diagnosis to exclude FAP in a high risk pregnancy.
Dalton A, Shannon NL, Johnson M, Cook J.
Dalton A, et al. Among authors: shannon nl.
Prenat Diagn. 1998 Jul;18(7):756.
Prenat Diagn. 1998.
PMID: 9706663
No abstract available.
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