The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

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• 来源
  《Genetics in medicine》 |2019年第9期|共2页
• 作者

  van der Sluijs Pleuntje J.; Jansen Sandra; Vergano Samantha A.; Adachi-Fukuda Miho; Alanay Yasemin; AlKindy Adila; Baban Anwar; Bayat Allan; Beck-Woedl Stefanie; Berry Katherine; Bijlsma Emilia K.; Bok Levinus A.; Brouwer Alwin F. J.; van der Burgt Ineke; Campeau Philippe M.; Canham Natalie; Chrzanowska Krystyna; Chu Yoyo W. Y.; Chung Brain H. Y.; Dahan Karin; De Rademaeker Marjan; Destree Anne; Dudding-Byth Tracy; Earl Rachel; Elcioglu Nursel; Elias Ellen R.; Fagerberg Christina; Gardham Alice; Gener Blanca; Gerkes Erica H.; Grasshoff Ute; van Haeringen Arie; Heitink Karin R.; Herkert Johanna C.; den Hollander Nicolette S.; Horn Denise; Hunt David; Kant Sarina G.; Kato Mitsuhiro; Kayserili Hulya; Kersseboom Rogier; Kilic Esra; Krajewska-Walasek Malgorzata; Lammers Kylin; Laulund Lone W.; Lederer Damien; Lees Melissa; Lopez-Gonzalez Vanesa; Maas Saskia; Mancini Grazia M. S.; Marcelis Carlo; Martinez Francisco; Maystadt Isabelle; McGuire Marianne; Mckee Shane; Mehta Sarju; Metcalfe Kay; Milunsky Jeff; Mizuno Seiji; Moeschler John B.; Netzer Christian; Ockeloen Charlotte W.; Oehl-Jaschkowitz Barbara; Okamoto Nobuhiko; Olminkhof Sharon N. M.; Orellana Carmen; Pasquier Laurent; Pottinger Caroline; Riehmer Vera; Robertson Stephen P.; Roifman Maian; Rooryck Caroline; Ropers Fabienne G.; Rosello Monica; Ruivenkamp Claudia A. L.; Sagiroglu Mahmut S.; Sallevelt Suzanne C. E. H.; Calvo Amparo Sanchis; Simsek-Kiper Pelin O.; Soares Gabriela; Solaeche Lucia; Sonmez Fatma Mujgan; Splitt Miranda; Steenbeek Duco; Stegmann Alexander P. A.; Stumpel Constance T. R. M.; Tanabe Saori; Uctepe Eyyup; Utine G. Eda; Veenstra-Knol Hermine E.; Venkateswaran Sunita; Vilain Catheline; Vincent-Delorme Catherine; Vulto-van Silfhout Anneke T.; Wheeler Patricia; Wilson Golder N.; Wilson Louise C.; Wollnik Bernd; Kosho Tomoki; Wieczorek Dagmar; Eichler Evan; Pfundt Rolph; de Vries Bert B. A.; Clayton-Smith Jill; Santen Gijs W. E.;

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• 作者单位

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Childrens Hosp Kings Daughters Div Med Genet &

  Metab Norfolk VA USA;

  St Marianna Univ Sch Med Dept Pediat Kawasaki Kanagawa Japan;

  Acibadem Univ Pediat Genet Unit Dept Pediat Sch Med Istanbul Turkey;

  Sultan Qaboos Univ Hosp Dept Genet Muscat Oman;

  Bambino Gesu Children Hosp Pediat Cardiol &

  Cardiac Surg Dept Rome Italy;

  Copenhagen Univ Hosp Hvidovre Copenhagen Denmark;

  Univ Hosp Tubingen Dept Mol Genet &

  Appl Genom Tubingen Germany;

  Shodair Hosp Dept Med Genet Helena MT USA;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Maxima Med Ctr Dept Pediat Veldhoven Netherlands;

  Nij Smellinghe Hosp Dept Pediat Drachten Netherlands;

  Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

  CHU St Justine Dept Pediat Montreal PQ Canada;

  Northwick Pk Hosp &

  Clin Res Ctr North West Thames Reg Genet Serv Harrow Middx England;

  Childrens Mem Hlth Inst Dept Med Genet Warsaw Poland;

  Univ Hong Kong Li Ka Shing Fac Med Dept Pediat &

  Adolescent Med Hong Kong Peoples R China;

  Univ Hong Kong Li Ka Shing Fac Med Dept Pediat &

  Adolescent Med Hong Kong Peoples R China;

  Inst Pathol &

  Genet Ctr Human Genet Gosselies Belgium;

  Vrije Univ Brussels Ctr Med Genet Brussels Belgium;

  Inst Pathol &

  Genet Ctr Human Genet Gosselies Belgium;

  Hunter Genet Newcastle NSW Australia;

  Univ Washington Dept Psychiat &

  Behav Sci Seattle WA 98195 USA;

  Marmara Univ Pendik Hosp Dept Pediat Genet Istanbul Turkey;

  Univ Colorado Denver Sch Med Dept Pediat &

  Genet Aurora CO USA;

  Odense Univ Hosp Dept Clin Genet Odense Denmark;

  Northwick Pk Hosp &

  Clin Res Ctr North West Thames Reg Genet Serv Harrow Middx England;

  Cruces Univ Hosp Biocruces Hlth Res Inst Dept Genet Vizcayam Spain;

  Univ Groningen Univ Med Ctr Groningen Dept Genet Groningen Netherlands;

  Univ Hosp Tubingen Dept Mol Genet &

  Appl Genom Tubingen Germany;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Leiden Univ Med Ctr Dept Rehabil Med Leiden Netherlands;

  Univ Groningen Univ Med Ctr Groningen Dept Genet Groningen Netherlands;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Charite Inst Med Genet &

  Human Genet Berlin Germany;

  Princess Anne Hosp Wessex Clin Genet Serv Southampton Hants England;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Showa Univ Sch Med Dept Pediat Tokyo Japan;

  Koc Univ Sch Med KUSoM Dept Med Genet Istanbul Turkey;

  Erasmus MC Sophia Childrens Hosp Dept Clin Genet Rotterdam Netherlands;

  Hematol Oncol Res &

  Training Childrens Hosp Dept Pediat Genet Ankara Turkey;

  Childrens Mem Hlth Inst Dept Med Genet Warsaw Poland;

  Dayton Childrens Hosp Dept Med Genet Dayton OH USA;

  Odense Univ Hosp Dept Paediat Odense Denmark;

  Inst Pathol &

  Genet Ctr Human Genet Gosselies Belgium;

  Great Ormond St Hosp NHS Fdn Trust Dept Clin Genet London England;

  Hosp Clin Univ Virgen de la Arrixaca Secc Genet Med Serv Pediat IMIB Arrixaca CIBERERISCIII;

  Univ Amsterdam Acad Med Ctr Dept Clin Genet Amsterdam Netherlands;

  Erasmus MC Sophia Childrens Hosp Dept Clin Genet Rotterdam Netherlands;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Hosp Univ Politecn La Fe Unidad Genet Valencia Spain;

  Inst Pathol &

  Genet Ctr Human Genet Gosselies Belgium;

  Baylor Coll Med Dept Mol &

  Human Genet One Baylor Plaza Houston TX 77030 USA;

  Belfast City Hosp Northern Ireland Reg Genet Ctr Belfast Antrim Ireland;

  Cambridge Univ Hosp NHS Fdn Trust East Anglian Reg Genet Serv Addenbrookes Hosp Cambridge;

  Manchester Univ Hosp NHS Fdn Trust Manchester Ctr Genom Med Div Evolut &

  Genom Sci St Marys Hosp;

  Ctr Human Genet Inc Cambridge MA USA;

  Aichi Human Serv Ctr Cent Hosp Dept Pediat Kasugai Aichi Japan;

  Dartmouth Coll Geisel Sch Med Dept Pediat Hanover NH 03755 USA;

  Univ Hosp Cologne Inst Human Genet Cologne Germany;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Gemeinschaftspraxis Humangenet Homburg Saar Homburg Germany;

  Osaka Womens &

  Childrens Hosp Dept Med Genet Osaka Japan;

  Leiden Univ Med Ctr Willem Alexander Childrens Hosp Leiden Netherlands;

  Hosp Univ Politecn La Fe Unidad Genet Valencia Spain;

  CLAD Ouest CHU Hop Sud CRMR Deficiences Intellectuelles Serv Genet Med Rennes France;

  Glan Clwyd Gen Hosp All Wales Med Genet Serv Rhyl Wales;

  Univ Hosp Cologne Inst Human Genet Cologne Germany;

  Univ Otago Dunedin Sch Med Dunedin New Zealand;

  Univ Toronto Hosp Sick Children Dept Paediat Div Clin &

  Metab Genet Toronto ON Canada;

  CHU Bordeaux Dept Med Genet Bordeaux France;

  Leiden Univ Med Ctr Dept Pediat Leiden Netherlands;

  Hosp Univ Politecn La Fe Unidad Genet Valencia Spain;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

  Genpute Computat Technol Co Istanbul Turkey;

  Maastricht Univ Med Ctr Dept Clin Genet Maastricht Netherlands;

  Hosp Univ Doctor Peset Serv Pediat Valencia Spain;

  Hacettepe Univ Sch Med Ihsan Dogramaci Childrens Hosp Dept Pediat Genet Ankara Turkey;

  Ctr Hosp Porto Jacinto Magalhaes Med Genet Ctr Porto Portugal;

  Hosp Univ Son Espases Dept Neurometab Palma De Mallorca Spain;

  Karadeniz Tech Univ Fac Med Dept Child Neurol Trabzon Turkey;

  Inst Med Genet Northern Genet Serv Newcastle Upon Tyne Tyne &

  Wear England;

  Leiden Univ Med Ctr Dept Rehabil Med Leiden Netherlands;

  Maastricht Univ Med Ctr Dept Clin Genet Maastricht Netherlands;

  Maastricht Univ Med Ctr Dept Clin Genet Maastricht Netherlands;

  Nihon Kai Gen Hosp Div Pediat Yamagata Prefectural &

  Sakata Municipal Hosp Org Sakata Yamagata;

  Enva Engn Ankara Turkey;

  Hacettepe Univ Sch Med Ihsan Dogramaci Childrens Hosp Dept Pediat Genet Ankara Turkey;

  Univ Groningen Univ Med Ctr Groningen Dept Genet Groningen Netherlands;

  Univ Ottawa Childrens Hosp Eastern Ontario Dept Pediat Div Neurol Ottawa ON Canada;

  Univ Libre Bruxelles Dept Genet Hop Univ Enfants Reine Fabiola ULB Ctr Med Genet Brussels;

  Hop Jeanne de Flandre CHRU Lille Serv Genet Clin Guy Fontaine Lille France;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Arnold Palmer Hosp Div Genet Orlando FL USA;

  Med City Hosp Dallas KinderGenome Genet Dallas TX USA;

  Great Ormond St Hosp NHS Fdn Trust Dept Clin Genet London England;

  Univ Med Ctr Gottingen Inst Human Genet Gottingen Germany;

  Shinshu Univ Hosp Ctr Med Genet Matsumoto Nagano Japan;

  Heinrich Heine Univ Fac Med Inst Human Genet Dusseldorf Germany;

  Univ Washington Sch Med Dept Genome Sci Seattle WA USA;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Radboud Univ Nijmegen Med Ctr Donders Inst Brain Cognit &

  Behav Dept Human Genet Nijmegen;

  Manchester Univ Hosp NHS Fdn Trust Manchester Ctr Genom Med Div Evolut &

  Genom Sci St Marys Hosp;

  Leiden Univ Med Ctr Dept Clin Genet Leiden Netherlands;

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• 正文语种 eng
• 中图分类 医学遗传学;
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