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- [31] Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemiaJOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (04) : 748 - 758Delnoy, Britt论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, GROW, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsHaskovic, Minela论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, GROW, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsVanoevelen, Jo论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, GROW, Maastricht, Netherlands Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsSteinbusch, Laura K. M.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsVos, Esther Naomi论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsKnoops, Kevin论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Microscopy CORE Lab, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsZimmermann, Luc J., I论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, GROW, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsNoga, Marek论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Translat Metab Lab, Med Ctr, Nijmegen, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsLefeber, Dirk J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Translat Metab Lab, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsMartini, Paolo G., V论文数: 0 引用数: 0 h-index: 0机构: Moderna Inc, Cambridge, MA USA Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsCoelho, Ana, I论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, NetherlandsRubio-Gozalbo, Maria Estela论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands Maastricht Univ, GROW, Maastricht, Netherlands Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Maastricht Univ, Dept Pediat, Med Ctr, Maastricht, Netherlands
- [32] Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (04) : 672 - 686论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Zariwala, Maimoona A.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAGilberti, Renee M.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Ctr Hlth, Dept Mol Microbial & Struct Biol, Farmington, CT 06030 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA论文数: 引用数: h-index:机构:Hellman, Nathan论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPathak, Narendra论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USALiu, Yan论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPanizzi, Jennifer R.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPatel-King, Ramila S.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Ctr Hlth, Dept Mol Microbial & Struct Biol, Farmington, CT 06030 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USATritschler, Douglas论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Genet Cell Biol & Dev, Minneapolis, MN 55455 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USABower, Raqual论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Genet Cell Biol & Dev, Minneapolis, MN 55455 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAO'Toole, Eileen论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Dept Mol Cellular & Dev Biol, Boulder Lab Electron Microscopy Cells 3D, Boulder, CO 80309 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPorath, Jonathan D.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAHurd, Toby W.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAChaki, Moumita论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USADiaz, Katrina A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAKohl, Stefan论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USALovric, Svjetlana论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAHwang, Daw-Yang论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA论文数: 引用数: h-index:机构:Schueler, Markus论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAAirik, Rannar论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAOtto, Edgar A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USALeigh, Margaret W.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USANoone, Peadar G.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USACarson, Johnny L.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USADavis, Stephanie D.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPittman, Jessica E.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Pediat, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAFerkol, Thomas W.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAAtkinson, Jeffry J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Div Pulm & Crit Care, St Louis, MO 63110 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAOlivier, Kenneth N.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USASagel, Scott D.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Pediat, Aurora, CO 80045 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USADell, Sharon D.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Toronto, ON M5G 1X8, Canada Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA论文数: 引用数: h-index:机构:Milla, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Stanford, CA 94304 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USALoges, Niki T.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, D-48149 Munster, Germany Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAOmran, Heymut论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, D-48149 Munster, Germany Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAPorter, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Genet Cell Biol & Dev, Minneapolis, MN 55455 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAKing, Stephen M.论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Ctr Hlth, Dept Mol Microbial & Struct Biol, Farmington, CT 06030 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAKnowles, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Cyst Fibrosis Pulm Res & Treatment Ctr, Chapel Hill, NC 27599 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USADrummond, Iain A.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA Harvard Univ, Sch Med, Boston Childrens Hosp, Div Nephrol,Dept Genet, Boston, MA 02115 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USAHildebrandt, Friedhelm论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA Howard Hughes Med Inst, Chevy Chase, MD 20815 USA Massachusetts Gen Hosp, Div Nephrol, Charlestown, MA 02129 USA
- [33] Re: Zebrafish Ciliopathy Screen plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary DyskinesiaJOURNAL OF UROLOGY, 2014, 191 (05): : 1355 - 1355Niederberger, Craig论文数: 0 引用数: 0 h-index: 0
- [34] SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia DiagnosticsAMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY, 2020, 62 (03) : 382 - 396Cindric, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyDougherty, Gerard W.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyOlbrich, Heike论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyHjeij, Rim论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyLoges, Niki Tomas论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyAmirav, Israel论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyPhilipsen, Maria C.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Danish PCD Ctr, Dept Pediat & Adolescent Med, ERN Accredited,Pediat Pulm Serv, Copenhagen, Denmark Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyMarthin, June K.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Danish PCD Ctr, Dept Pediat & Adolescent Med, ERN Accredited,Pediat Pulm Serv, Copenhagen, Denmark Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyNielsen, Kim G.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Danish PCD Ctr, Dept Pediat & Adolescent Med, ERN Accredited,Pediat Pulm Serv, Copenhagen, Denmark Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanySutharsan, Sivagurunathan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Essen, Dept Pulm Med, Ruhrlandklin, Essen, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyRaidt, Johanna论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyWerner, Claudius论文数: 0 引用数: 0 h-index: 0机构: HELIOS Hosp Schwerin, Dept Pediat, Schwerin, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyPennekamp, Petra论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyDworniczak, Bernd论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, GermanyOmran, Heymut论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany Univ Childrens Hosp Muenster, Dept Gen Pediat, Albert Schweitzer Campus 1, D-48149 Munster, Germany
- [35] Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia UltrastructureFRONTIERS IN GENETICS, 2018, 9Yang, Lin论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaBanerjee, Santasree论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaCao, Jie论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Dept Resp, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaBai, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaPeng, Zhijun论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Dept Radiol, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaChen, Haixia论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaHuang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaHan, Peng论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaFeng, Shunyu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaYi, Na论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaSong, Xueru论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaWu, Jing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China
- [36] Characterization of the medaka (Oryzias latipes) primary ciliary dyskinesia mutant, jaodori: Redundant and distinct roles of dynein axonemal intermediate chain 2 (dnai2) in motile ciliaDEVELOPMENTAL BIOLOGY, 2010, 347 (01) : 62 - 70论文数: 引用数: h-index:机构:Iijima, Norio论文数: 0 引用数: 0 h-index: 0机构: Nippon Med Sch, Dept Anat & Neurobiol, Bunkyo Ku, Tokyo 1138602, Japan Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, JapanHagiwara, Haruo论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Anat & Cell Biol, Gunma 3718511, Japan Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, JapanKamura, Keiichiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Sci, Dept Biol Sci, Bunkyo Ku, Tokyo 1130033, Japan Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, JapanTakeda, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Sci, Dept Biol Sci, Bunkyo Ku, Tokyo 1130033, Japan Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, JapanYokoyama, Takahiko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, Japan Kyoto Prefectural Univ Med, Grad Sch Med Sci, Dept Anat & Dev Biol, Kyoto 6028566, Japan
- [37] TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus FlagellaAMERICAN JOURNAL OF HUMAN GENETICS, 2020, 106 (02) : 153 - 169Thomas, Lucie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceBouhouche, Khaled论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sud, Univ Paris Saclay, Ctr Energie Atom & Energies Alternat, I2BC,CNRS, F-91198 Gif Sur Yvette, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceWhitfield, Marjorie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, U1016,INSERM,UMR8104, F-75014 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceThouvenin, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Physiol & Explorat Fonct, Unite Fonct Explorat Fonct Resp Somnol,Ctr Natl R, F-75012 Paris, France Sorbonne Univ, Ctr Rech St Antoine, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceCoste, Andre论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, F-94010 Creteil, France Ctr Hosp Intercommunal Creteil, AP HP, Serv Otorhinolaryngol & Chirurg Cerv Faciale, F-94010 Creteil, France Univ Paris Est, Fac Med, CNRS, U955,INSERM,ERL7240, F-94010 Creteil, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France论文数: 引用数: h-index:机构:Szymanski, Claire论文数: 0 引用数: 0 h-index: 0机构: Hop Huriez, Serv Otorhinolaryngol & Chirurg Cerv Faciale, Ctr Hosp Univ Lille, F-59000 Lille, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceBequignon, Emilie论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, F-94010 Creteil, France Ctr Hosp Intercommunal Creteil, AP HP, Serv Otorhinolaryngol & Chirurg Cerv Faciale, F-94010 Creteil, France Univ Paris Est, Fac Med, CNRS, U955,INSERM,ERL7240, F-94010 Creteil, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FrancePapon, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est, Fac Med, CNRS, U955,INSERM,ERL7240, F-94010 Creteil, France Hop Bicetre, AP HP, Serv Otorhinolaryngol & Chirurg Cerv Faciale, F-94275 Le Kremlin Bicetre, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceCastelli, Manon论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sud, Univ Paris Saclay, Ctr Energie Atom & Energies Alternat, I2BC,CNRS, F-91198 Gif Sur Yvette, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceLemullois, Michel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sud, Univ Paris Saclay, Ctr Energie Atom & Energies Alternat, I2BC,CNRS, F-91198 Gif Sur Yvette, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceDhalluin, Xavier论文数: 0 引用数: 0 h-index: 0机构: Hop Calmette, Serv Pneumol & Oncol Thorac & Endoscopie Resp, CHU Lille, F-59000 Lille, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceDrouin-Garraud, Valerie论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, Serv Genet Med, Ctr Hosp Univ Hop Rouen, F-76000 Rouen, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceMontantin, Guy论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceTissier, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceDuquesnoy, Philippe论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceCopin, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceDastot, Florence论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France论文数: 引用数: h-index:机构:Barbotin, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: Hop Jeanne Flandre, Inst Biol Reprod Spermiol Cecos, CHU Lille, F-59000 Lille, France Univ Lille, EA4308 Gametogenesis & Gamete Qual, F-59000 Lille, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceFaucon, Catherine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Intercommunal Creteil, Serv Anatomopathol, Lab Microscopie Electron, F-94010 Creteil, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceHonore, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, AP HP, Serv Pneumol & Oncol Thorac, F-75014 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceMaitre, Bernard论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, Serv Pneumol, F-94010 Creteil, France Ctr Hosp Intercommunal Creteil, AP HP, F-94010 Creteil, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceBeydon, Nicole论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Physiol & Explorat Fonct, Unite Fonct Explorat Fonct Resp Somnol,Ctr Natl R, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceTamalet, Aline论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Serv Physiol & Explorat Fonct, Unite Fonct Explorat Fonct Resp Somnol,Ctr Natl R, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceRives, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Rouen Univ Hosp, Dept Reprod Biol, Ctr Etud & Conservat Sperme,UNIROUEN,EA Gametogen, EA 4308 Gametogenesis & Gamete Quality, F-76000 Rouen, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceKoll, France论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sud, Univ Paris Saclay, Ctr Energie Atom & Energies Alternat, I2BC,CNRS, F-91198 Gif Sur Yvette, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceEscudier, Estelle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceTassin, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Sud, Univ Paris Saclay, Ctr Energie Atom & Energies Alternat, I2BC,CNRS, F-91198 Gif Sur Yvette, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceToure, Aminata论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin, U1016,INSERM,UMR8104, F-75014 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceMitchell, Valerie论文数: 0 引用数: 0 h-index: 0机构: Hop Jeanne Flandre, Inst Biol Reprod Spermiol Cecos, CHU Lille, F-59000 Lille, France Univ Lille, EA4308 Gametogenesis & Gamete Qual, F-59000 Lille, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceAmselem, Serge论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, FranceLegendre, Marie论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France Hop Armand Trousseau, AP HP, Dept Genet Med, F-75012 Paris, France Sorbonne Univ, INSERM, Hop Armand Trousseau, U933, F-75012 Paris, France
- [38] TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagellaEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 119 - 119Thomas, Lucie论文数: 0 引用数: 0 h-index: 0机构: INSERM, U933, Paris, France INSERM, U933, Paris, FranceBouhouche, Khaled论文数: 0 引用数: 0 h-index: 0机构: Inst Integrat Biol Cell, Gif Sur Yvette, France INSERM, U933, Paris, FranceWhitfield, Marjorie论文数: 0 引用数: 0 h-index: 0机构: Inserm, IAB Inst Adv Biosci, U1209, Grenoble, France INSERM, U933, Paris, FranceThouvenin, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceCoste, Andre论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Creteil, France Ctr Hosp Intercommunal Creteil, Creteil, France INSERM, U933, Paris, FranceLouis, Bruno论文数: 0 引用数: 0 h-index: 0机构: INSERM, U955, Creteil, France INSERM, U933, Paris, FranceSzymanski, Claire论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Otorhinolaryngol & Chirurg Crvicofaciale, Lille, France INSERM, U933, Paris, FranceBequignon, Emilie论文数: 0 引用数: 0 h-index: 0机构: Hop Henri Mondor, AP HP, Creteil, France Ctr Hosp Intercommunal Creteil, Creteil, France INSERM, U933, Paris, FrancePapon, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: AP HP, Serv Otorhinolaryngol & Chirurg Crvicofaciale, Le Kremlin Bicetre, France INSERM, U933, Paris, FranceCastelli, Manon论文数: 0 引用数: 0 h-index: 0机构: Inst Integrat Biol Cell, Gif Sur Yvette, France INSERM, U933, Paris, FranceLemullois, Michel论文数: 0 引用数: 0 h-index: 0机构: Inst Integrat Biol Cell, Gif Sur Yvette, France INSERM, U933, Paris, FranceDhalluin, Xavier论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Pneumol & Oncol Thorac & Endoscopie Resp, Lille, France INSERM, U933, Paris, FranceDrouin-Garraud, Valerie论文数: 0 引用数: 0 h-index: 0机构: CHU Hop Rouen, Serv Genet Med, Rouen, France INSERM, U933, Paris, FranceMontantin, Guy论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceTissier, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceDuquesnoy, Philippe论文数: 0 引用数: 0 h-index: 0机构: INSERM, U933, Paris, France INSERM, U933, Paris, FranceCopin, Bruno论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceDastot-Le Moal, Florence论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceCouvet, Sandrine论文数: 0 引用数: 0 h-index: 0机构: INSERM, U933, Paris, France INSERM, U933, Paris, FranceBarbotin, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Inst Biol Reprod Spermiol Cecos, Lille, France INSERM, U933, Paris, FranceFaucon, Catherine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Intercommunal Creteil, Serv Anatomopathol, Lab Mcroscopie Elect, Creteil, France INSERM, U933, Paris, FranceHonore, Isabelle论文数: 0 引用数: 0 h-index: 0机构: INSERM, U933, Paris, FranceMaitre, Bernard论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, AP HP, Serv Pneumol & Oncol Thorac, Paris, France Hop Henri Mondor, AP HP, Creteil, France Ctr Hosp Intercommunal Creteil, Serv Pneumol, Creteil, France INSERM, U933, Paris, FranceBeydon, Nicole论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceTamalet, Aline论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, APHP, Paris, France INSERM, U933, Paris, FranceRives, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Rouen Univ Hosp, Dept Reprod Biol, Rouen, France INSERM, U933, Paris, FranceKoll, France论文数: 0 引用数: 0 h-index: 0机构: Inst Integrat Biol Cell, Gif Sur Yvette, France INSERM, U933, Paris, FranceEscudier, Estelle论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Paris APHP, Dept Genet Med, Paris, France INSERM, U933, Paris, FranceTassin, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Inst Integrat Biol Cell, Gif Sur Yvette, France INSERM, U933, Paris, FranceToure, Aminata论文数: 0 引用数: 0 h-index: 0机构: Inserm, IAB Inst Adv Biosci, U1209, Grenoble, France INSERM, U933, Paris, FranceMitchell, Valerie论文数: 0 引用数: 0 h-index: 0机构: INSERM, U933, Paris, FranceAmselem, Serge论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Paris APHP, Dept Genet Med, Paris, France INSERM, U933, Paris, FranceLegendre, Marie论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Paris APHP, Dept Genet Med, Paris, France INSERM, U933, Paris, France
- [39] Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure (vol 9, 23, 2018)FRONTIERS IN GENETICS, 2018, 9Yang, Lin论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaBanerjee, Santasree论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaCao, Jie论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Dept Resp, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaBai, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaPeng, Zhijun论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Dept Radiol, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaChen, Haixia论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaHuang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaHan, Peng论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaFeng, Shunyu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaYi, Na论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaSong, Xueru论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R ChinaWu, Jing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Genom, Shenzhen, Peoples R China Tianjin Med Univ, Gen Hosp, Ctr Reprod Med, Tianjin, Peoples R China
- [40] Active cycle of breathing technique versus oscillating positive expiratory pressure therapy: Effect on lung function in children with primary ciliary dyskinesia; A feasibility studyCHRONIC RESPIRATORY DISEASE, 2025, 22Fashho, Bishara论文数: 0 引用数: 0 h-index: 0机构: Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, Palestine Caritas Baby Hosp, Bethlehem, Palestine Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, PalestineRumman, Nisreen论文数: 0 引用数: 0 h-index: 0机构: Caritas Baby Hosp, Bethlehem, Palestine Al Quds Univ, Fac Med, East Jerusalem, Palestine Washington Univ, Sch Med, St. Louis, MO USA Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, PalestineLucas, Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, England Univ Southampton, Acad Unit Clin & Expt Med, Fac Med, Southampton, England Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, PalestineHalaweh, Hadeel论文数: 0 引用数: 0 h-index: 0机构: Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, Palestine Al Quds Univ, Fac Hlth Profess, Dept Physiotherapy & Rehabil, POB 51000, East Jerusalem 00972, Palestine