...
机译:Puf60变体导致ID,身材矮小,微骨骼,Coloboma,Craniofacial,心脏,肾和脊柱特征的综合征
St Michaels Hosp Dept Clin Genet Bristol Avon England;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh Midlothian Scotland;
Univ Leipzig Inst Human Genet Hosp &
Clin Leipzig Germany;
Univ Hosp Wales Inst Med Genet Cardiff S Glam Wales;
Hop Hautepierre Serv Genet Med Strasbourg France;
Univ Edinburgh MRC Inst Genet &
Mol Med MRC Human Genet Unit Edinburgh Midlothian Scotland;
Southmead Hosp Bristol Reg Genet Lab Bristol Avon England;
Newcastle Upon Tyne Hosp Northern Genet Serv Newcastle England;
Great Ormond St Hosp Sick Children Dept Clin Genet London England;
Oregon Hlth &
Sci Univ Dept Mol &
Med Genet Portland OR 97201 USA;
CHU Dijon Bourgogne Hop Francois Mitterrand Ctr Genet Dijon France;
Oslo Univ Hosp Dept Med Genet Oslo Norway;
Univ Leipzig Inst Human Genet Hosp &
Clin Leipzig Germany;
Oslo Univ Hosp Dept Med Genet Oslo Norway;
Carle Phys Grp Genet &
Metab Pediat Subspecialties Urbana IL USA;
Belfast City Hosp Northern Ireland Reg Genet Serv Belfast Antrim North Ireland;
St Georges Univ Hosp Trust SW Thames Reg Genet Serv London England;
CHU Dijon Bourgogne Hop Francois Mitterrand Ctr Genet Dijon France;
Oslo Univ Hosp Dept Med Genet Oslo Norway;
CHRU Montpellier Hop Arnaud Villeneuve Serv Genet Med Montpellier France;
Oregon Hlth &
Sci Univ Dept Mol &
Med Genet Portland OR 97201 USA;
St Michaels Hosp Dept Clin Genet Bristol Avon England;
机译:Puf60变体导致ID,身材矮小,微骨骼,Coloboma,Craniofacial,心脏,肾和脊柱特征的综合征
机译:眼睛组落瘤和复杂的心脏畸形属于PUF60变体的临床谱
机译:一种新发现的2p15-16.1小缺失综合征,表现出中等程度的发育延迟,自闭行为,身材矮小,小头畸形和畸形特征:一名新患者,缺失3.2 Mb。
机译:计算分析氯喹对人心室短QT综合征变异1和变异3的作用
机译:PUF60变体会导致ID综合征身材矮小小头畸形大肠癌颅面心脏肾脏和脊髓特征
机译:PUF60变异体会导致ID综合征,身材矮小,小头畸形,大肠癌,颅面,心脏,肾脏和脊髓特征