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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1976 | 1 |
2002 | 1 |
2006 | 1 |
2008 | 1 |
2022 | 1 |
2024 | 1 |
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Page 1
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print.
J Med Genet. 2024.
PMID: 38458752
Free article.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR.
Hall HN, et al. Among authors: heyningen vv.
PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022.
PLoS One. 2022.
PMID: 36413568
Free PMC article.
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Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
Sale MM, Craig JE, Charlesworth JC, FitzGerald LM, Hanson IM, Dickinson JL, Matthews SJ, Heyningen Vv Vv, Fingert JH, Mackey DA.
Sale MM, et al. Among authors: heyningen vv vv.
Hum Mutat. 2002 Oct;20(4):322. doi: 10.1002/humu.9066.
Hum Mutat. 2002.
PMID: 12325030
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Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics.
Aymé S, Matthijs G, Soini S; ESHG Working Party on Patenting and Licensing.
Aymé S, et al.
Eur J Hum Genet. 2008 May;16 Suppl 1:S10-9. doi: 10.1038/ejhg.2008.37.
Eur J Hum Genet. 2008.
PMID: 18432281
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Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.
Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen Vv, Fitzpatrick DR.
Faivre L, et al. Among authors: heyningen vv.
Am J Med Genet A. 2006 Mar 15;140(6):636-9. doi: 10.1002/ajmg.a.31114.
Am J Med Genet A. 2006.
PMID: 16470798
No abstract available.
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Assignment of the genes for mitochondrial malate dehydrogenase and for SV40 T-antigen to human chromosome 7.
Heyningen VV, Koprowski H, Croce CM.
Heyningen VV, et al.
Birth Defects Orig Artic Ser. 1976;12(7):244-6.
Birth Defects Orig Artic Ser. 1976.
PMID: 192370
No abstract available.
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