- A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function
[作者：Homma, S; Chen, JCJ; Rahimov, F; Beermann, ML; Hanger, K; Bibat, GM; Wagner, KR; Kunkel, LM; Emerson, CP; Miller, JB,期刊：European Journal of Human Genetics, 页码：404-410 , 文章类型： Article，,卷期：2012年20-4]
- To explore possible mechanisms of pathology in facioscapulohumeral muscular dystrophy (FSHD), we generated a novel library of myogenic cells composed of paired cultures derived from FSHD subjects and unaffected first-deg...
- Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
[作者：Thomas, L; Spurlock, G; Eudall, C; Thomas, NS; Mort, M; Hamby, SE; Chuzhanova, N; Brems, H; Legius, E; Cooper, DN; Upadhyaya, M,期刊：European Journal of Human Genetics, 页码：411-419 , 文章类型： Article，,卷期：2012年20-4]
- Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerou...
- In search of triallelism in Bardet-Biedl syndrome
[作者：Abu-Safieh, L; Al-Anazi, S; Al-Abdi, L; Hashem, M; Alkuraya, H; Alamr, M; Sirelkhatim, MO; Al-Hassnan, Z; Alkuraya, B; Mohamed, JY; Al-Salem, A; Alrashed, M; Faqeih, E; Softah, A; Al-Hashem, A; Wali, S; Rahbeeni, Z; Alsayed, M; Khan, AO; Al-Gazali, L; Taschner, PEM; Al-Hazzaa, S; Alkuraya, FS,期刊：European Journal of Human Genetics, 页码：420-427 , 文章类型： Article，,卷期：2012年20-4]
- Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins e...
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