Author:
van Kuilenburg André B. P.,Meijer Judith,Mul Adri N. P. M.,Hennekam Raoul C. M.,Hoovers Jan M. N.,de Die-Smulders Christine E. M.,Weber Peter,Mori Andrea Capone,Bierau Jörgen,Fowler Brian,Macke Klaus,Sass Jörn Oliver,Meinsma Rutger,Hennermann Julia B.,Miny Peter,Zoetekouw Lida,Vijzelaar Raymon,Nicolai Joost,Ylstra Bauke,Rubio-Gozalbo M. Estela
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference33 articles.
1. Au KM, Lai CK, Yuen YP, Shek CC, Lam CW, Chan AYW (2003) Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria. Hong Kong Med J 9:130–132
2. Bisgaard AM, Rasmussen LN, Moller HU, Kirchhoff M, Bryndorf T (2007) Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata. Clin Dysmorphol 16:109–112
3. Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM (2005) Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet 13:921–927
4. Brauer AU, Savaskan NE, Kuhn H, Prehn S, Ninnemann O, Nitsch R (2003) A new phospholipid phosphatase, PRG-1, is involved in axon growth and regenerative sprouting. Nat Neurosci 6:572–578
5. Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D (2001) Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. J Med Genet 38:35–38
Cited by
50 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献