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- [44] Neuropsychiatric features in autosomal-recessive early parkinsonism due to PINK1 mutationsNEUROLOGY, 2006, 66 (05) : A332 - A332Ephraty, L论文数: 0 引用数: 0 h-index: 0Cohen, O论文数: 0 引用数: 0 h-index: 0Hatano, Y论文数: 0 引用数: 0 h-index: 0Hattori, N论文数: 0 引用数: 0 h-index: 0Hassin-Baer, S论文数: 0 引用数: 0 h-index: 0
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- [47] Autosomal recessive transmission of familial nonsyndromic dilated cardiomyopathy due to compound desmoplakin gene mutationsPOLISH ARCHIVES OF INTERNAL MEDICINE-POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ, 2018, 128 (12): : 785 - 787Surmacz, Rafal论文数: 0 引用数: 0 h-index: 0机构: Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, Poland Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, PolandFranaszczyk, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Dept Med Biol, Ul Alpejska 42, PL-04628 Warsaw, Poland Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, PolandPyda, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Poznan Univ Med Sci, Dept Cardiol, Poznan, Poland Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, PolandPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Dept Med Biol, Ul Alpejska 42, PL-04628 Warsaw, Poland Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, PolandBilinska, Zofia T.论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Unit Screening Studies Inherited Cardiovasc Dis, Warsaw, Poland Poznan Univ Med Sci, Dept Pediat Cardiol, Ul Szpitalna 27-33, PL-60572 Poznan, Poland论文数: 引用数: h-index:机构:
- [48] Clinical heterogeneity in autosomal recessive congenital ichthyosis due to NIPAL4/ichthyin mutationsBRITISH JOURNAL OF DERMATOLOGY, 2015, 173 : 77 - 78Ngu, S. T.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandCordey, H.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, Dept Dermatol, Dundee DD1 9SY, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandAffleck, A.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, Dept Dermatol, Dundee DD1 9SY, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandTerron-Kwiatowski, A.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, East Scotland Reg Genet Serv, Dundee DD1 9SY, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandBaty, D.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, East Scotland Reg Genet Serv, Dundee DD1 9SY, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandGoudie, D.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, Dept Clin Genet, Dundee DD1 9SY, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandBrown, S. J.论文数: 0 引用数: 0 h-index: 0机构: Ninewells Hosp, Dept Dermatol, Dundee DD1 9SY, Scotland Univ Dundee, Dermatol & Genet Med, Dundee, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandJury, C.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, ScotlandZamiri, M.论文数: 0 引用数: 0 h-index: 0机构: So Gen Hosp, Alan Lyell Ctr Dermatol, Dept Dermatol, Glasgow G51 4TF, Lanark, Scotland Univ Hosp Crosshouse, Dept Dermatol, Kilmarnock, Ayr, Scotland Royal Hosp Sick Children, Dept Dermatol, Glasgow G3 8SJ, Lanark, Scotland
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Irwin论文数: 0 引用数: 0 h-index: 0机构: Univ Dundee, Ctr Dermatol & Genet Med, Coll Life Sci & Med, Dundee DD1 5EH, Scotland Univ Dundee, Ctr Dermatol & Genet Med, Coll Dent, Dundee DD1 5EH, Scotland Univ Dundee, Ctr Dermatol & Genet Med, Coll Nursing, Dundee DD1 5EH, Scotland Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaWang, Huijun论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China Beijing Key Lab Mol Diag Dermatoses, Beijing 100034, Peoples R China Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaFeng, Cheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China Beijing Key Lab Mol Diag Dermatoses, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaDuo, Lina论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China Beijing Key Lab Mol Diag Dermatoses, Beijing 100034, Peoples R China Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaZhou, Eray Yihui论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China Beijing Key Lab Mol Diag Dermatoses, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaRen, Yali论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Lab Electron Microscopy, Beijing 100034, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaDai, Lanlan论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaChen, Yulan论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaZhang, Jianguo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaXu, Xun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaO'Toole, Edel A.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Cutaneous Res, London E1 2AT, England Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaKelsell, David P.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Cutaneous Res, London E1 2AT, England Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R ChinaYang, Yong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China Beijing Key Lab Mol Diag Dermatoses, Beijing 100034, Peoples R China Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China Peking Univ, Hosp 1, Dept Dermatol, Beijing 100034, Peoples R China
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