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- [31] Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) : 511 - 518Senderek, Jan论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, CH-8093 Zurich, Switzerland Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandGarvey, Sean M.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Div Cardiovasc Med, Robert M Berne Cardiovasc Res Ctr, Charlottesville, VA 22908 USA Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandKrieger, Michael论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandGuergueltcheva, Velina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Alexandrovska Univ Hosp, Neurol Clin, Sofia 1431, Bulgaria ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandUrtizberea, Andoni论文数: 0 引用数: 0 h-index: 0机构: Hop Marin Hendaye, F-64701 Hendaye, France ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandRoos, Andreas论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandElbracht, Miriam论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandStendel, Claudia论文数: 0 引用数: 0 h-index: 0机构: ETH, Inst Cell Biol, CH-8093 Zurich, Switzerland Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandTournev, Ivailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Alexandrovska Univ Hosp, Neurol Clin, Sofia 1431, Bulgaria ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandMihailova, Violeta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Alexandrovska Univ Hosp, Neurol Clin, Sofia 1431, Bulgaria ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandFeit, Howard论文数: 0 引用数: 0 h-index: 0机构: Henry Ford Hosp, Dept Neurol, Detroit, MI 48202 USA ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandTramonte, Jeff论文数: 0 引用数: 0 h-index: 0机构: Scott & White Mem Hosp & Clin, Dept Neurol, Temple, TX 76508 USA ETH, Inst Cell Biol, CH-8093 Zurich, Switzerland论文数: 引用数: h-index:机构:Crooks, Kristy论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandBergmann, Carsten论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandRudnik-Schoeneborn, Sabine论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandZerres, Klaus论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandSeboun, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, Div Genet & Microbiol, F-75005 Paris, France ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Neuropathol, D-52074 Aachen, Germany ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandBeckmann, Jacques S.论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Dept & Serv Med Genet, CH-1005 Lausanne, Switzerland CHU Vaudois, CH-1005 Lausanne, Switzerland ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandHauser, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27710 USA ETH, Inst Cell Biol, CH-8093 Zurich, SwitzerlandJackson, Charles E.论文数: 0 引用数: 0 h-index: 0机构: Scott & White Mem Hosp & Clin, Dept Med, Temple, TX 76508 USA ETH, Inst Cell Biol, CH-8093 Zurich, Switzerland
- [32] Mice with a D190N Mutation in the Gene Encoding Rhodopsin: A Model for Human Autosomal-Dominant Retinitis PigmentosaMolecular Medicine, 2012, 18 : 549 - 555Javier Sancho-Pelluz论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsJoaquin Tosi论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsChun-Wei Hsu论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsFrances Lee论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsKyle Wolpert论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsMirela R. Tabacaru论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsJonathan P. Greenberg论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsStephen H. Tsang论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and SurgeonsChyuan-Sheng Lin论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and Surgeons
- [33] Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathyCLINICAL GENETICS, 2000, 58 (04) : 329 - 332Shastry, BS论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAHejtmancik, JF论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAHiraoka, M论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAIbaraki, N论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAOkubo, Y论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAOkubo, A论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USAHan, DP论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USATrese, MT论文数: 0 引用数: 0 h-index: 0机构: Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA Oakland Univ, Eye Res Inst, Rochester, MI 48309 USA
- [34] MUTATION OF THE PAX6 GENE IN PATIENTS WITH AUTOSOMAL-DOMINANT KERATITISAMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (03) : 539 - 548MIRZAYANS, F论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADA UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADAPEARCE, WG论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADA UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADAMACDONALD, IM论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADA UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADAWALTER, MA论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADA UNIV ALBERTA, DEPT OPHTHALMOL, EDMONTON, AB, CANADA
- [35] Mice with a D190N Mutation in the Gene Encoding Rhodopsin: A Model for Human Autosomal-Dominant Retinitis PigmentosaMOLECULAR MEDICINE, 2012, 18 (04) : 549 - 555论文数: 引用数: h-index:机构:Tosi, Joaquin论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Kresge Eye Inst, Detroit, MI USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USAHsu, Chun-Wei论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USALee, Frances论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Herbert Irving Comprehens Canc Ctr, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USAWolpert, Kyle论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USATabacaru, Mirela R.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USAGreenberg, Jonathan P.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USATsang, Stephen H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Edward S Harkness Eye Inst, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USALin, Chyuan-Sheng论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA Columbia Univ, Herbert Irving Comprehens Canc Ctr, New York, NY 10032 USA Columbia Univ, Coll Phys & Surg, Dept Pathol & Cell Biol, Bernard & Shirlee Brown Glaucoma Lab, New York, NY 10032 USA
- [36] Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratodermaGENETICS IN MEDICINE, 2022, 24 (05) : 1085 - 1095Malovitski, Kiril论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelSarig, Ofer论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelAssaf, Sari论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMohamad, Janan论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelMalki, Liron论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelBergson, Shir论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelPeled, Alon论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelEskin-Schwartz, Marina论文数: 0 引用数: 0 h-index: 0机构: Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel Soroka Univ Med Ctr, Genet Inst, Beer Sheva, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelGat, Andrea论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Inst Pathol, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelPavlovsky, Mor论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, IsraelSprecher, Eli论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Div Dermatol, 6 Weizmann St, IL-64239 Tel Aviv, Israel
- [37] Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyNature Genetics, 1999, 21 : 285 - 288Gisèle Bonne论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsMarina Raffaele Di Barletta论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsShaida Varnous论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsHenri-Marc Bécane论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsEl-Hadi Hammouda论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsLuciano Merlini论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsFrancesco Muntoni论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsCheryl R. Greenberg论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsFrançoise Gary论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsJon-Andoni Urtizberea论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsDenis Duboc论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsMichel Fardeau论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsDaniela Toniolo论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of PaediatricsKetty Schwartz论文数: 0 引用数: 0 h-index: 0机构: INSERM UR153,Department of Paediatrics
- [38] Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (01) : 34 - 45Wang, Huijun论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaHumbatova, Aytaj论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Fac, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp Bonn, D-53127 Bonn, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaLiu, Yuanxiang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Dermatol, Beijing 100045, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaQin, Wen论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaLee, Mingyang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaCesarato, Nicole论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Fac, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp Bonn, D-53127 Bonn, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaKumar, Sheetal论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Fac, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp Bonn, D-53127 Bonn, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaRomano, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Fac, Inst Human Genet, D-53127 Bonn, Germany Univ Hosp Bonn, D-53127 Bonn, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaDai, Shangzhi论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaMo, Ran论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaSivalingam, Sugirthan论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Fac, Inst Med Biometry Informat & Epidemiol, D-53127 Bonn, Germany Univ Bonn, Med Fac, Inst Genom Stat & Bioinformat, D-53127 Bonn, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaMotameny, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaWu, Yuan论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Ophthalmol, Hosp 1, Beijing 100034, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaWang, Xiaopeng论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Dept Dermatol, Affiliated Hosp 2, Xian 710004, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaNiu, Xinwu论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Dept Dermatol, Affiliated Hosp 2, Xian 710004, Peoples R China Peking Univ, Natl Clin Res Ctr Skin & Immune Dis, Beijing Key Lab Mol Diag Dermatoses, Hosp 1,Dept Dermatol, Beijing 100034, Peoples R ChinaGeng, Songmei论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Dept Dermatol, Affiliated Hosp 2, Xian 710004, Peoples R China Peking Univ, Natl Clin Res 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- [39] Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos DiseaseAMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (01) : 135 - 143Basmanav, F. Buket论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyOprisoreanu, Ana-Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Neuropathol, D-53127 Bonn, Germany Univ Bonn, Dept Epileptol, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyPasternack, Sandra M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyThiele, Holger论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, CCG, D-50931 Cologne, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyFritz, Guenter论文数: 0 引用数: 0 h-index: 0机构: Univ Freiburg, Neurozentrum, Dept Neuropathol, D-79106 Freiburg, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyWenzel, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Dermatol, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyGroesser, Leopold论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Dermatol, D-93053 Regensburg, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyWehner, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyWolf, Sabrina论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyFagerberg, Christina论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyBygum, Anette论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Dermatol, DK-5000 Odense, Denmark Odense Univ Hosp, Allergy Ctr, DK-5000 Odense, Denmark Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyAltmueller, Janine论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, CCG, D-50931 Cologne, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyRuetten, Arno论文数: 0 引用数: 0 h-index: 0机构: Lab Dermatohistopathol, D-88048 Friedrichshafen, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyParmentier, Laurent论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Berne, Dept Dermatol, CH-3008 Bern, Switzerland Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyEl Shabrawi-Caelen, Laila论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Dept Dermatol, A-8036 Graz, Austria Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyHafner, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Dermatol, D-93053 Regensburg, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyNuernberg, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, CCG, D-50931 Cologne, Germany Univ Cologne, Cluster Excellence Cellular Stress Responses Agin, D-50674 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyKruse, Roland论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanySchoch, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Neuropathol, D-53127 Bonn, Germany Univ Bonn, Dept Epileptol, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyHanneken, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Dusseldorf, Dept Dermatol, D-40225 Dusseldorf, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, GermanyBetz, Regina C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany
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