PHENOTYPIC SPECTRUM OF AU-KLINE SYNDROME: 12 NEW CASES AND REVIEW OF THE LITERATURE

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• 来源
  《American journal of medical genetics, Part A》 |2019年第4期|共2页
• 作者

  Au P. Y. B.; Goedhart C.; Ferguson M.; Breckpot J.; Devriendt K.; Wierenga K.; Fanning E.; Grange D. K.; Graham G. E.; Dyment D. A.; Galarreta C.; Jones M. C.; Kini U.; Stewart H.; Mehta S.; Castiglioni C.; Nezarati M. M.; Aul R. B.; Rosenfeld J. A.; Hanchard N.; Burrage L.; Weiss K.; Parboosingh J. S.; Kline A. D.; Innes A. M.;

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• 作者单位

  Univ Calgary Cumming Sch Med Dept Med Genet Calgary AB Canada;

  Univ Calgary Cumming Sch Med Alberta Childrens Hosp Res Inst Calgary AB Canada;

  Greater Baltimore Med Ctr Harvey Inst Human Genet Dept Pediat Baltimore MA USA;

  Katholieke Univ Leuven Ctr Human Genet Leuven Belgium;

  Katholieke Univ Leuven Ctr Human Genet Leuven Belgium;

  Univ Oklahoma Hlth Sci Ctr Dept Pediat Genet Sect Oklahoma City OK 73190 USA;

  Univ Oklahoma Hlth Sci Ctr Dept Pediat Genet Sect Oklahoma City OK 73190 USA;

  Washington Univ Dept Pediat Div Genet &

  Genom Med Sch Med St Louis MO 63130 USA;

  Childrens Hosp Eastern Ontario Dept Genet Ottawa ON Canada;

  Childrens Hosp Eastern Ontario Dept Genet Ottawa ON Canada;

  Univ Calif San Diego Sch Med Dept Pediat Div Genet San Diego CA USA;

  Univ Calif San Diego Sch Med Dept Pediat Div Genet San Diego CA USA;

  Oxford Univ Hosp NHS Fdn Trust Oxford Ctr Genom Med Oxford England;

  Oxford Univ Hosp NHS Fdn Trust Oxford Ctr Genom Med Oxford England;

  Cambridge Univ Hosp NHS Fdn Trust Addenbrookes Hosp Cambridge England;

  Clin Las Condes Dept Pediat Unit Neurol Santiago Chile;

  North York Gen Hosp Genet Program Toronto ON Canada;

  Trillium Hlth Partners Lab Med &

  Genet Program Mississauga ON Canada;

  Baylor Coll Med Undiagnosed Dis Network Houston TX 77030 USA;

  Baylor Coll Med Undiagnosed Dis Network Houston TX 77030 USA;

  Baylor Coll Med Undiagnosed Dis Network Houston TX 77030 USA;

  Rambam Med Ctr Genet Inst Haifa Israel;

  Univ Calgary Cumming Sch Med Dept Med Genet Calgary AB Canada;

  Greater Baltimore Med Ctr Harvey Inst Human Genet Dept Pediat Baltimore MA USA;

  Univ Calgary Cumming Sch Med Dept Med Genet Calgary AB Canada;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词

• 入库时间 2022-08-20 02:16:07