Christian Becker

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

G. Mortier, R. Hennekam, G. Nürnberg, 2007, American journal of human genetics.

A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3

H. Hennies, H. Kayserili, G. Nürnberg, 2007, Clinical genetics.

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

Bethan E. Hoskins, A. Bakkaloğlu, F. Hildebrandt, 2006, Kidney international.

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

G. Nürnberg, C. Becker, P. Nürnberg, 2010, Molecular Syndromology.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

R. Hennekam, J. Tolmie, G. Mortier, 2007, American Journal of Human Genetics.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

G. Mortier, D. Fitzpatrick, R. Hennekam, 2007, American journal of human genetics.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.