Ian Young

发表

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

E. Zackai, J. Mandel, P. Sassone-Corsi, 1996, Nature.

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2004, American journal of human genetics.

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

N. Rahman, P. Futreal, G. Bignell, 2003, American journal of human genetics.

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

C. Walsh, M. Ross, R. Kuzniecky, 2000, American journal of human genetics.

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Sahar Mansour, Jean Weissenbach, J. Weissenbach, 1994, Nature.

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

David I. Wilson, T. Strachan, A. Buckler, 1997, Nature Genetics.

Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

J. Trochu, I. Young, R. Newbury-Ecob, 2006, Circulation.

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease ( EDS-VIII ) Is a Distinct , Heterogeneous Disorder with One Predisposition Gene at Chromosome 12 p 13

N. Rahman, P. Futreal, G. Bignell, 2007 .