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- [1] Craniosynostosis in Kabuki syndrome Case reportJOURNAL OF NEUROSURGERY-PEDIATRICS, 2010, 6 (02) : 198 - 201Martinez-Lage, Juan F.论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, SpainFelipe-Murcia, Matias论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, SpainGuillen Navarro, Encarna论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Unit Med Genet, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, SpainAlmagro, Maria-Jose论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, SpainLopez Lopez-Guerrero, Antonio论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, SpainPerez-Espejo, Miguel A.论文数: 0 引用数: 0 h-index: 0机构: Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain Virgen de la Arrixaca Univ Hosp, Reg Serv Neurosurg, Murcia 30120, Spain
- [2] Neurobehavioral features in individuals with Kabuki syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (03): : 322 - 331Caciolo, Cristina论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyAlfieri, Paolo论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyPiccini, Giorgia论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyDigilio, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Genet & Rare Dis Res Div, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyLepri, Francesca Romana论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Genet & Rare Dis Res Div, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Genet & Rare Dis Res Div, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyMenghini, Deny论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, ItalyVicari, Stefano论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy IRCCS, Bambino Gesu Childrens Hosp, Dept Neurosci, Rome, Italy
- [3] Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implicationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (02) : 268 - 278Nishi, Eriko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan Natl Ctr Global Hlth & Med, Res Inst, Dept Human Genet, Tokyo, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanKawamura, Rie论文数: 0 引用数: 0 h-index: 0机构: Fujita Hlth Univ, Inst Comprehens Med Sci, Div Mol Genet, Toyoake, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanHosoki, Kana论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanHasegawa, Yuiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan Osaka Womens & Childrens Hosp, Reserch Inst, Dept Mol Med, Izumi, Japan Osaka Womens & Childrens Hosp, Dept Med Genet, Izumi, Japan
- [4] Abnormal Immune Profile in Individuals with Kabuki SyndromeJOURNAL OF CLINICAL IMMUNOLOGY, 2025, 45 (01)Comel, Margot论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, France Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, FranceSaad, Norma论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Inst Regenerat Med & Biotherapy IRMB, INSERM, U1183, Montpellier, France Arthrit R&D, Arthrit, Montpellier, France Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, FranceSil, Debapratim论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Inst Regenerat Med & Biotherapy IRMB, INSERM, U1183, Montpellier, France Chrom Rare Consortium, Trento, Italy Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, FranceApparailly, Florence论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Inst Regenerat Med & Biotherapy IRMB, INSERM, U1183, Montpellier, France Univ Hosp Lapeyronie, Clin Dept Osteoarticular Dis, Montpellier, France Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, France论文数: 引用数: h-index:机构:Djouad, Farida论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, Inst Regenerat Med & Biotherapy IRMB, INSERM, U1183, Montpellier, France Chrom Rare Consortium, Trento, Italy Univ Hosp Lapeyronie, Clin Dept Osteoarticular Dis, Montpellier, France Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, FranceAndrau, Jean-Christophe论文数: 0 引用数: 0 h-index: 0机构: Inst Genet Mol Montpellier IGMM, CNRS, UMR 5535, Montpellier, France Chrom Rare Consortium, Trento, Italy Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, FranceLozano, Claire论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Lab immunol, Montpellier, France Montpellier Univ, Hop Arnaud Villeneuve, Ctr Reference Anomalies Dev Syndromes Malformat, Genet Clin,CHU Montpellier, 371 Ave Doyen Gaston Giraud 34295 MONTPELLIER cede, F-34295 Montpellier 5, France论文数: 引用数: h-index:机构:
- [5] Speech and Language in a Genotyped Cohort of Individuals with Kabuki SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (07) : 1483 - 1492Morgan, Angela T.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:Da Costa, Annette论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaFifer, Joanne论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaLederer, Damien论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet, Inst Pathol & Genet, Gosselies, Belgium Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaBenoit, Valerie论文数: 0 引用数: 0 h-index: 0机构: Ctr Human Genet, Inst Pathol & Genet, Gosselies, Belgium Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaMcMillin, Margaret J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaBuckingham, Kati J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaBamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaPope, Kate论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, AustraliaWhite, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Royal Childrens Hosp, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia
- [6] Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatmentAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (02) : 219 - 223Schott, Dina A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands Zuyderland Med Ctr, Dept Pediat, Heerlen, Netherlands Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, NetherlandsStumpel, Constance T. R. 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, GROW Sch Oncol & Dev Biol, Med Ctr, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, NetherlandsKlaassens, Merel论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Pediat, Maastricht, Netherlands
- [7] Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsGENETICS IN MEDICINE, 2020, 22 (01) : 181 - 188Margot, Henri论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceBoursier, Guilaine论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Genet Med Malad Rares & Med Personnalisee, Montpellier, France Univ Montpellier, INSERM U1183, Montpellier, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceDuflos, Claire论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Dept Informat Med, Montpellier, France CHU Bordeaux, Serv Genet Med, Bordeaux, France论文数: 引用数: h-index:机构:Amiel, Jeanne论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Federat Genet, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Inst Imagine, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM UMR1163, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceAndrau, Jean-Christophe论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier, IGMM, Montpellier, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceArpin, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Tours, Serv Genet, CHU Tours, UMR 1253,iBrain,Inserm, Tours, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceBrischoux-Boucher, Elise论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceBoute, Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CHU Lille, Ctr Reference Malad Rares Anomalies Dev Nord Oues, Clin Genet Med, Lille, France Univ Lille, EA7364, Lille, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceBurglen, Lydie论文数: 0 引用数: 0 h-index: 0机构: Hop Trousseau, AP HP, Dept Genet & Embryol Med,GHUEP, Ctr Reference Malformat & Malad Congenit Cervelet, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceCaille, Charlotte论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Serv Genet Med, Brest, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceCapri, Yline论文数: 0 引用数: 0 h-index: 0机构: AP HP Robert Debre, Serv Genet Med, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceCollignon, Patrick论文数: 0 引用数: 0 h-index: 0机构: CHI Toulon, Serv Genet Med, Toulon, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceConrad, Solene论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Federat Genet, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Inst Imagine, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM UMR1163, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceDelplancq, Geoffroy论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Genet Humaine, Besancon, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceDieterich, Klaus论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Serv Genet Med, Grenoble, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceDollfus, Helene论文数: 0 引用数: 0 h-index: 0机构: CHU Strasbourg, Serv Genet Med, Strasbourg, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceFradin, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes, CHU Rennes, Serv Genet Clin, IGDR,UMR6290 CNRS, Rennes, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Serv Genet Med, Dijon, France CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceFernandes, Helder论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Onco Hematol Pediat, Bordeaux, France CHU Bordeaux, Ctr Reference Cytopenies Autoimmunes Enfant, Bordeaux, France Univ Bordeaux, INSERM CICP, Bordeaux, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceFrancannet, Christine论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France CHU Bordeaux, Serv Genet Med, Bordeaux, France论文数: 引用数: h-index:机构:Gerard, Marion论文数: 0 引用数: 0 h-index: 0机构: CHU Caen, Serv Genet Med, Caen, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, U1245, F-76000 Rouen, France Rouen Univ Hosp, Dept Genet, F-76000 Rouen, France Normandy Ctr Genom & Personalized Med, Reference Ctr Dev Disorders, F-76000 Rouen, France CHU Bordeaux, Serv Genet Med, Bordeaux, France论文数: 引用数: h-index:机构:Grotto, Sarah论文数: 0 引用数: 0 h-index: 0机构: AP HP Robert Debre, Serv Genet Med, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceGuerrot, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, UNIROUEN, U1245, F-76000 Rouen, France Rouen Univ Hosp, Dept Genet, F-76000 Rouen, France Normandy Ctr Genom & Personalized Med, Reference Ctr Dev Disorders, F-76000 Rouen, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceGuichet, Agnes论文数: 0 引用数: 0 h-index: 0机构: CHU Angers, Serv Genet Med, Angers, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceJacquemont, Marie-Line论文数: 0 引用数: 0 h-index: 0机构: CHU Reunion, Serv Genet Med, St Pierre, France Ctr Reference Anomalies Dev & Syndromes Malformat, St Pierre, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceJulia, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Toulouse, Serv Genet Med, Toulouse, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceKhau Van Kien, Philippe论文数: 0 引用数: 0 h-index: 0机构: CHU Nimes, Serv Genet Med, Nimes, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceLegendre, Marine论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France Ctr Reference Anomalies Dev & Syndromes Malformat, St Pierre, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceLe Quan Sang, K. H.论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceLeheup, Bruno论文数: 0 引用数: 0 h-index: 0机构: CHU Nancy, Serv Genet Med, Nancy, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceLyonnet, Stanislas论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Federat Genet, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Inst Imagine, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM UMR1163, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceMagry, Virginie论文数: 0 引用数: 0 h-index: 0机构: CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceManouvrier, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, CHU Lille, Ctr Reference Malad Rares Anomalies Dev Nord Oues, Clin Genet Med, Lille, France Univ Lille, EA7364, Lille, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceMartin, Dominique论文数: 0 引用数: 0 h-index: 0机构: CH Mans, Serv Genet Med, Le Mans, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceMorel, Godelieve论文数: 0 引用数: 0 h-index: 0机构: CHU Nice, Serv Genet Med, Nice, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceMunnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Federat Genet, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Inst Imagine, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM UMR1163, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceNaudion, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Genet Med, Bordeaux, France Ctr Reference Anomalies Dev & Syndromes Malformat, St Pierre, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes, CHU Rennes, Serv Genet Clin, IGDR,UMR6290 CNRS, Rennes, France CHU Bordeaux, Serv Genet Med, Bordeaux, FrancePerrin, Laurence论文数: 0 引用数: 0 h-index: 0机构: AP HP Robert Debre, Serv Genet Med, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, France论文数: 引用数: h-index:机构:Philip, Nicole论文数: 0 引用数: 0 h-index: 0机构: CHU Marseille, Serv Genet Med, Marseille, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceRio, Marlene论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Federat Genet, Paris, France Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malades, AP HP, Inst Imagine, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM UMR1163, Paris, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceRobbe, Julie论文数: 0 引用数: 0 h-index: 0机构: CHU Marseille, Serv Genet Med, Marseille, France CHU Bordeaux, Serv Genet Med, Bordeaux, FranceRossi, Massimiliano论文数: 0 引用数: 0 h-index: 0机构: CHU Lyon, Serv Genet Med, Lyon, France CHU Bordeaux, Serv Genet Med, Bordeaux, France
- [8] Orofacial features and medical profile of eight individuals with Kabuki syndromeMEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, 2019, 24 (05): : E630 - E635Silva-Andrade, Natalia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilLopez-Ortega, Karem论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilGallottini, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, Brazil
- [9] Kabuki syndromeANALES DE PEDIATRIA, 2012, 77 (01): : 51 - 56Suarez Guerrero, J. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ind Santander, Fac Salud, Grp Invest Genet Clin, Bucaramanga, Santander, Colombia Univ Ind Santander, Fac Salud, Grp Invest Genet Clin, Bucaramanga, Santander, ColombiaOrdonez Suarez, A. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ind Santander, Fac Salud, Grp Invest Genet Clin, Bucaramanga, Santander, Colombia Univ Ind Santander, Fac Salud, Grp Invest Genet Clin, Bucaramanga, Santander, ColombiaContreras Garcia, G. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Santander, Dept Pediat, Univ Ind Santander, Grp Genet Humana, Bucaramanga, Santander, Colombia Univ Ind Santander, Fac Salud, Grp Invest Genet Clin, Bucaramanga, Santander, Colombia
- [10] Caroli's disease and severe renal anomalies in individuals with Kabuki syndrome.JOURNAL OF INVESTIGATIVE MEDICINE, 1998, 46 (01) : 130A - 130AEwart-Toland, A论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USAEnns, GM论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USACox, VA论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USAChandraMohun, G论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USAGolabi, M论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA