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- [1] Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodScientific Reports, 11Ana Latorre-Pellicer论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyMarta Gil-Salvador论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyIlaria Parenti论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyCristina Lucia-Campos论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyLaura Trujillano论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyIñigo Marcos-Alcalde论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyMaría Arnedo论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyÁngela Ascaso论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyAriadna Ayerza-Casas论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyRebeca Antoñanzas-Pérez论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyCristina Gervasini论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyMaria Piccione论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyMilena Mariani论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyAxel Weber论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyDeniz Kanber论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyAlma Kuechler论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyMartin Munteanu论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyKatharina Khuller论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyGloria Bueno-Lozano论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyBeatriz Puisac论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyPaulino Gómez-Puertas论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyAngelo Selicorni论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyFrank J. Kaiser论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyFeliciano J. Ramos论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of PharmacologyJuan Pié论文数: 0 引用数: 0 h-index: 0机构: Universidad de Zaragoza,Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology
- [2] Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodSCIENTIFIC REPORTS, 2021, 11 (01)Latorre-Pellicer, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainGil-Salvador, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainParenti, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainLucia-Campos, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainTrujillano, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainMarcos-Alcalde, Inigo论文数: 0 引用数: 0 h-index: 0机构: CBMSO CSIC UAM, Ctr Biol Mol Severo Ochoa, Mol Modelling Grp, Madrid 28049, Spain Univ Francisco de Vitoria, Sch Expt Sci, Biosci Res Inst, Madrid 28223, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainArnedo, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainAscaso, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainAyerza-Casas, Ariadna论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Serv Paediat, Unit Paediat Cardiol, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainAntonanzas-Perez, Rebeca论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Mariani, Milena论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Dept Pediat, Ctr Fdn Mariani Peril Bambino Fragile, San Fermo Della Battagli, Como, Italy Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainWeber, Axel论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ, Inst Human Genet, Giessen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainKanber, Deniz论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainKuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain论文数: 引用数: h-index:机构:Khuller, Katharina论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainBueno-Lozano, Gloria论文数: 0 引用数: 0 h-index: 0机构: IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Hosp Clin Univ Lozano Blesa, Sch Med, Dept Paediat,Unit Clin Genet,Serv Paediat, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainPuisac, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainGomez-Puertas, Paulino论文数: 0 引用数: 0 h-index: 0机构: CBMSO CSIC UAM, Ctr Biol Mol Severo Ochoa, Mol Modelling Grp, Madrid 28049, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainSelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Dept Pediat, Ctr Fdn Mariani Peril Bambino Fragile, San Fermo Della Battagli, Como, Italy Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainKaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Klinikum Essen, Univ Med Essen, Essener Zentrum Seltene Erkrankungen EZSE, Essen, Germany Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainRamos, Feliciano J.论文数: 0 引用数: 0 h-index: 0机构: IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Hosp Clin Univ Lozano Blesa, Sch Med, Dept Paediat,Unit Clin Genet,Serv Paediat, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, SpainPie, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain IIS Aragon, Zaragoza 50009, Spain Univ Zaragoza, Sch Med, Dept Pharmacol Physiol, Unit Clin Genet & Funct Genom,CIBERER GCV02, Zaragoza 50009, Spain
- [3] Germline mosaicism in Cornelia de Lange syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (06) : 1481 - 1485Slavin, Thomas P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USALazebnik, Noam论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Case Med Ctr, Dept Obstet & Gynecol, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAClark, Dinah M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAVengoechea, Jaime论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USACohen, Leslie论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAKaur, Maninder论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAKonczal, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USACrowe, Carol A.论文数: 0 引用数: 0 h-index: 0机构: Metrohlth Med Ctr, Dept Genet, Cleveland, OH USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USACorteville, Jane E.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA Univ Hosp Cleveland, Case Med Ctr, Dept Obstet & Gynecol, Cleveland, OH 44106 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USANowaczyk, Malgorzata J.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pathol & Mol Med & Pediat, Hamilton, ON, Canada Hamilton Hlth Ctr Co, Hamilton, ON, Canada Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAByrne, Janice L.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Obstet & Gynecol & Pediat, Salt Lake City, UT USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAJackson, Laird G.论文数: 0 引用数: 0 h-index: 0机构: Drexel Univ, Sch Med, Div Obstet & Gynecol, Philadelphia, PA 19104 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USAKrantz, Ian D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Hosp Cleveland, Dept Genet & Ctr Human Genet, Case Med Ctr, Cleveland, OH 44106 USA
- [4] Double somatic mosaicism in Cornelia de Lange syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (05)Pezzani, Lidia论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Pediat, Bergamo, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Genet Clin, Milan, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyPezzoli, Laura论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyRosina, Erica论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyScatigno, Agnese论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Pediat, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyCereda, Anna论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Pediat, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyLucca, Camilla论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyBellini, Matteo论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyMarchetti, Daniela论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyMaino, Marzia论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Patol Neonatale, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyMangili, Giovanna论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Patol Neonatale, Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana, Pediat, I-22010 S Fermo Della Battaglia, Como, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, ItalyIascone, Maria论文数: 0 引用数: 0 h-index: 0机构: ASST Papa Giovanni XXIII, Lab Genet Med, Bergamo, Italy ASST Papa Giovanni XXIII, Lab Genet Med, Piazza OMS 1, I-24127 Bergamo, Italy ASST Papa Giovanni XXIII, Pediat, Bergamo, Italy
- [5] High rate of mosaicism in individuals with Cornelia de Lange syndromeJOURNAL OF MEDICAL GENETICS, 2013, 50 (05) : 339 - 344Huisman, Sylvia A.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Ctr Individuals Intellectual Disabil, Prinsenstichting, Purmerend, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsRedeker, Egbert J. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsMaas, Saskia M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsMannens, Marcel M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, NetherlandsHennekam, Raoul C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands
- [6] Genetic heterogeneity and somatic mosaicism in Cornelia de Lange SyndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 232 - 232Rondeau, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, FranceTourre, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, FranceRoyer, Ghislaine论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, FranceMichot, Caroline论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, FranceSteffann, Julie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, FranceCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France Hop Necker Enfants Malad, Serv Med Genom Malad Rares, Paris, France
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- [8] Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?CLINICAL GENETICS, 2010, 78 (06) : 560 - 564Castronovo, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy Fdn Policlin Mangiagalli & Regina Elena, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyDelahaye-Duriez, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Jean Verdier, AP HP, Serv Histol Embryol & Cytogenet, Bondy, France Univ Paris 13, UFR SMBH, Bobigny, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy论文数: 引用数: h-index:机构:Azzollini, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyMinier, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 13, UFR SMBH, Bobigny, France Hop Jean Verdier, AP HP, Serv Pediat, Bondy, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyRusso, S.论文数: 0 引用数: 0 h-index: 0机构: Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyMasciadri, M.论文数: 0 引用数: 0 h-index: 0机构: Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalySelicorni, A.论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Mangiagalli & Regina Elena, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyVerloes, A.论文数: 0 引用数: 0 h-index: 0机构: Robert Debre Univ Hosp, AP HP, Dept Genet, Inserm U676, Paris, France Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, ItalyLarizza, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy Ist Auxolog Italiano, Mol Genet Lab, Milan, Italy Univ Milan, San Paolo Sch Med, Div Med Genet, I-20142 Milan, Italy
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