Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: Possible PHACE syndromeSLAVOTINEK, Anne M; DUBOVSKY, Elizabeth; DIETZ, Harry C et al.American journal of medical genetics. 2002, Vol 110, Num 3, pp 283-288, issn 0148-7299Article

Holoprosencephaly in a Family Segregating Novel Variants in ZIC2 and GLI2WANNASILP, Nilrat; SOLOMON, Benjamin D; WARREN-MORA, Nicole et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 860-864, issn 1552-4825, 5 p.Article

Association between conformational mutations in neuroserpin and onset and severity of dementiaDAVIS, Richard L; SHRIMPTON, Antony E; PICCARDO, Pedro et al.Lancet (British edition). 2002, Vol 359, Num 9325, pp 2242-2247, issn 0140-6736Article

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humansROESSLER, Erich; YONG MA; OUSPENSKAIA, Maia V et al.Human genetics. 2009, Vol 125, Num 4, pp 393-400, issn 0340-6717, 8 p.Article

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsSOLOMON, Benjamin D; LACBAWAN, Felicitas; HEHR, Ute et al.Journal of medical genetics. 2010, Vol 47, Num 8, pp 513-524, issn 0022-2593, 12 p.Article

Additional EFNB1 Mutations in Craniofrontonasal SyndromeWALLIS, Deeann; LACBAWAN, Felicitas; CAREY, John C et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 15, pp 2008-2012, issn 1552-4825, 5 p.Article

Clinical heterogeneity in mitochondrial DNA deletion disorders : A diagnostic challenge of pearson syndromeLACBAWAN, Felicitas; TIFFT, Cynthia J; LUBAN, Naomi L. C et al.American journal of medical genetics. 2000, Vol 95, Num 3, pp 266-268, issn 0148-7299Article

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and HoloprosencephalyROESSLER, Erich; OUSPENSKAIA, Maia V; FELDMAN, Benjamin et al.American journal of human genetics. 2008, Vol 83, Num 1, pp 18-29, issn 0002-9297, 12 p.Article

Muenke Syndrome (FGFR3-Related Craniosynostosis) : Expansion of the Phenotype and Review of the LiteratureDOHERTY, Emily S; LACBAWAN, Felicitas; BROOKS, Brian P et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 24, pp 3204-3215, issn 1552-4825, 12 p.Article