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Year | Number of Results |
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2004 | 2 |
2005 | 1 |
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2022 | 1 |
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Page 1
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Eur J Med Genet. 2022 Dec;65(12):104627. doi: 10.1016/j.ejmg.2022.104627. Epub 2022 Sep 24.
Eur J Med Genet. 2022.
PMID: 36162733
Free article.
Cross-species analysis of viral nucleic acid interacting proteins identifies TAOKs as innate immune regulators.
Pennemann FL, Mussabekova A, Urban C, Stukalov A, Andersen LL, Grass V, Lavacca TM, Holze C, Oubraham L, Benamrouche Y, Girardi E, Boulos RE, Hartmann R, Superti-Furga G, Habjan M, Imler JL, Meignin C, Pichlmair A.
Pennemann FL, et al.
Nat Commun. 2021 Dec 1;12(1):7009. doi: 10.1038/s41467-021-27192-w.
Nat Commun. 2021.
PMID: 34853303
Free PMC article.
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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafé L, Spranger J, Superti-Furga A.
Zankl A, et al.
Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222.
Am J Med Genet A. 2004.
PMID: 15316962
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Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population.
Heinzmann A, Brugger M, Engels C, Prömpeler H, Superti-Furga A, Strauch K, Krueger M.
Heinzmann A, et al.
Acta Paediatr. 2009 Jan;98(1):25-30. doi: 10.1111/j.1651-2227.2008.01150.x.
Acta Paediatr. 2009.
PMID: 19086941
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Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
Zankl A, Pachman L, Poznanski A, Bonafé L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A.
Zankl A, et al.
J Bone Miner Res. 2007 Feb;22(2):329-33. doi: 10.1359/jbmr.061013.
J Bone Miner Res. 2007.
PMID: 17059372
Free article.
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Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafé L, Spranger J, Zabel B, Superti-Furga A.
Zankl A, et al.
Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531.
Am J Med Genet A. 2005.
PMID: 15643621
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Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
Zankl A, Jaeger G, Bonafé L, Boltshauser E, Superti-Furga A.
Zankl A, et al.
Am J Med Genet A. 2004 Dec 15;131(3):299-300. doi: 10.1002/ajmg.a.30366.
Am J Med Genet A. 2004.
PMID: 15523615
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