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- [21] Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromesEUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (01) : 88 - 98Di Fede, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy论文数: 引用数: h-index:机构:Augello, Bartolomeo论文数: 0 引用数: 0 h-index: 0机构: IRCSS Casa Sollievo Sofferenza, Unita Genet Med, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalySqueo, Gabriella论文数: 0 引用数: 0 h-index: 0机构: IRCSS Casa Sollievo Sofferenza, Unita Genet Med, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyScarano, Emanuela论文数: 0 引用数: 0 h-index: 0机构: AOU S Orsola Malpighi, Ambulatorio Malattie Rare Sindromol & Auxol UO Pe, Bologna, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyPerri, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: AOU S Orsola Malpighi, Ambulatorio Malattie Rare Sindromol & Auxol UO Pe, Bologna, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyFischetto, Rita论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Consorziale, UOC Malattie Metab Genet Med, PO Giovanni XXIII, Bari, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyCausio, Francesco Andrea论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Consorziale, UOC Malattie Metab Genet Med, PO Giovanni XXIII, Bari, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica, Fdn Policlin Univ A Gemelli, Ctr Malattie Rare & Difetti Congeniti, Rome, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy论文数: 引用数: h-index:机构:Curridori, Elena论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Antonio Cao, Dipartimento Clin Pediat & Malattie Rare, Cagliari, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyMazza, Tommaso论文数: 0 引用数: 0 h-index: 0机构: Unit Bioinformat IRCSS Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyCastellana, Stefano论文数: 0 引用数: 0 h-index: 0机构: Unit Bioinformat IRCSS Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyLarizza, Lidia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Auxol Italiano, Res Lab Med Cytogenet & Mol Genet, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyGhelma, Filippo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Sci Salute, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyColombo, Elisa Adele论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyGandini, Maria Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyCastori, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCSS Casa Sollievo Sofferenza, Unita Genet Med, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyMerla, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCSS Casa Sollievo Sofferenza, Unita Genet Med, San Giovanni Rotondo, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, ItalyMilani, Donatella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan, UOSD Pediat Ad Alta Intens Cura, Milan, Italy Univ Milan, Dipartimento Sci Salute, Genet Med & Biol Applicata, Milan, Italy论文数: 引用数: h-index:机构:
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- [23] Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case reportANNALS OF AGRICULTURAL AND ENVIRONMENTAL MEDICINE, 2023, 30 (03) : 577 - 579Reka, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, Poland Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, PolandWojciechowska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, Poland Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, PolandLejman, Monika论文数: 0 引用数: 0 h-index: 0机构: Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, Poland Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, Poland
- [24] Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A (vol 173, 2821, 2017)AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (11) : 2805 - 2805论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tanaka, Mai论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanSuzuki, Hisato论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanSakai, Aiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanImagawa, Kazuo论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanFukushima, Hiroko论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Child Hlth, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanIwabuti, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Child Hlth, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanFukushima, Takashi论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Child Hlth, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanSumazaki, Ryo论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Fac Med, Dept Child Hlth, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanUehara, Tomoko论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [25] Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesCLINICAL GENETICS, 2018, 94 (01) : 141 - 152Baer, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceAfenjar, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau La Roche Guyon, AP HP, Unite Genet, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceSmol, T.论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Inst Genet Med, Hop Jeanne de Flandre, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FrancePiton, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceGerard, B.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceAlembik, Y.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceBienvenu, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, CNRS, Inst Cochin,INSERM, U1016,UMR8104, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceBoursier, G.论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Dept Genet Med, Lab Genet Mol Malad Auto Inflammatoires & Malad R, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceBoute, O.论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceColson, C.论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceCordier, M. -P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet Med, Lyon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceCormier-Daire, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad,AP HP, Inst Imagine,Sorbonne Paris Cite, Dept Genet,INSERM,UMR1163, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceDelobel, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Catholique Lille, Ctr Genet Chromosom, Grp Hosp, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceDoco-Fenzy, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Serv Genet, Reims, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceDuban-Bedu, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Catholique Lille, Ctr Genet Chromosom, Grp Hosp, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceFradin, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Clin, Rennes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceGenevieve, D.论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Fac Med Montpellier Nimes, Dept Genet Med, INSERM,U1183, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceGoldenberg, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Rouen, Serv Genet Med, Rouen, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceGrelet, M.论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Marseille, Dept Genet Med, Marseille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceHaye, D.论文数: 0 引用数: 0 h-index: 0机构: CHU Paris GH La Pitie Salpetriere Charles Foix, Serv Genet Clin, Unite Fonct Genet Med, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceHeron, D.论文数: 0 引用数: 0 h-index: 0机构: CHU Paris GH La Pitie Salpetriere Charles Foix, Serv Genet Clin, Unite Fonct Genet Med, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceIsidor, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, Nantes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceKeren, B.论文数: 0 引用数: 0 h-index: 0机构: CHU Paris GH La Pitie Salpetriere Charles Foix, Ctr Genet Mol & Chromosom, Unite Fonct Genom Dev, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceLacombe, D.论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Dept Genet Med, Bordeaux, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceLebre, A. -S.论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Serv Genet & Biol Reprod, Lab Genet, Reims, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceLesca, G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet Med, Lyon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceMasurel, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Enfants, CHU Dijon, Ctr Genet, Dijon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceMathieu-Dramard, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceNava, C.论文数: 0 引用数: 0 h-index: 0机构: CHU Paris GH La Pitie Salpetriere Charles Foix, Ctr Genet Mol & Chromosom, Unite Fonct Genom Dev, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FrancePasquier, L.论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Clin, Rennes, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FrancePetit, A.论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FrancePhilip, N.论文数: 0 引用数: 0 h-index: 0机构: Assistance Publ Hop Marseille, Dept Genet Med, Marseille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FrancePiard, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, CHU Besancon, Ctr Genet Humaine, Besancon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceRondeau, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad,AP HP, Inst Imagine,Sorbonne Paris Cite, Dept Genet,INSERM,UMR1163, Paris, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France论文数: 引用数: h-index:机构:Sukno, S.论文数: 0 引用数: 0 h-index: 0机构: Hop St Vincent de Paul, Grp Hosp,Inst Catholique Lillois, Fac Libre Med, Serv Neuropediat, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceThevenon, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Equipe Accueil 4271, Genet Anomalies Dev, Dijon, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceVan-Gils, J.论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Dept Genet Med, Bordeaux, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceVincent-Delorme, C.论文数: 0 引用数: 0 h-index: 0机构: CHRU Lille, Serv Genet Clin, Lille, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceWillems, M.论文数: 0 引用数: 0 h-index: 0机构: CHRU Montpellier, Fac Med Montpellier Nimes, Dept Genet Med, INSERM,U1183, Montpellier, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceSchaefer, E.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, FranceMorin, G.论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens Picardie, Serv Genet Clin, Amiens, France Hop Univ Strasbourg, Inst Genet Med Alsace, Serv Genet Med, Strasbourg, France
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