- Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989
[作者：Evans, DGR; O'Hara, C; Wilding, A; Ingham, SL; Howard, E; Dawson, J; Moran, A; Scott-Kitching, V; Holt, F; Huson, SM,期刊：European Journal of Human Genetics, 页码：1187-1191 , 文章类型： Article，,卷期：2011年19-11]
- Neurofibromatosis 1 (NF1) is a comparatively common autosomal dominant disorder. However, relatively few studies have assessed lifetime risk; and information about the effect of NF1 on mortality remains uncertain. NF1 pa...
- Genetic determination of human facial morphology: links between cleft-lips and normal variation
[作者：Boehringer, S; van der Lijn, F; Liu, F; Gunther, M; Sinigerova, S; Nowak, S; Ludwig, KU; Herberz, R; Klein, S; Hofman, A; Uitterlinden, AG; Niessen, WJ; Breteler, MMB; van der Lugt, A; Wurtz, RP; Nothen, MM; Horsthemke, B; Wieczorek, D; Mangold, E; Kayser, M,期刊：European Journal of Human Genetics, 页码：1192-1197 , 文章类型： Article，,卷期：2011年19-11]
- Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly di...
- Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
[作者：Ghoumid, J; Andrieux, J; Sablonniere, B; Odent, S; Philippe, N; Zanlonghi, X; Saugier-Veber, P; Bardyn, T; Manouvrier-Hanu, S; Holder-Espinasse, M,期刊：European Journal of Human Genetics, 页码：1198-1201 , 文章类型： Article，,卷期：2011年19-11]
- HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed, following a spatio-tempora...
- Fatty acid desaturase 2 promoter mutation is not responsible for Delta 6-desaturase deficiency
[作者：Gregory, MK; Lester, SE; Cook-Johnson, RJ; Gibson, RA; Proudman, SM; Cleland, LG; James, MJ,期刊：European Journal of Human Genetics, 页码：1202-1204 , 文章类型： Article，,卷期：2011年19-11]
- Dietary essential polyunsaturated fatty acids (PUFAs) require fatty acid desaturases (FADS) for conversion to long-chain PUFAs (LCPUFAs), which are critical for many aspects of human health. A Delta 6-desaturase deficien...
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