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机译:X链接先天性皮,和相关的智力残疾,矮小的身材,微骨骼,腭裂,数字和生殖器异常定义新颖的XQ25Q26复制综合征
Danish Epilepsy Centre Dianalund Kolonivej 7 4293 Dianalund Denmark Wilhelm Johannsen Centre;
Institute for Human Genetics University Medicine Greifswald Greifswald Germany Interfaculty;
Department of Clinical Genetics Academic Medical Center Amsterdam Netherlands Department of;
Sunnybrook Research Institute University of Toronto Toronto ON Canada;
Sunnybrook Research Institute University of Toronto Toronto ON Canada;
Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular;
Department of Human Genetics Radboud University Medical Centre Nijmegen Netherlands;
Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Gl;
Institut de Génétique Médicale Hopital Jeanne de Flandre CHRU Lille France;
Service de Génétique Clinique CHU d'Amiens Amiens France;
Department of Clinical Genetics Rigshospitalet University Hospital of Copenhagen Copenhagen;
Department of Medical Genetics Oslo University Hospital Ullevaal Norway;
Department of Human Genetics Radboud University Medical Centre Nijmegen Netherlands;
Department of Human Genetics Radboud University Medical Centre Nijmegen Netherlands;
Department of Human Genetics VIB Center for the Biology of Disease KU Leuven Leuven Belgium;
Department of Human Genetics VIB Center for the Biology of Disease KU Leuven Leuven Belgium;
Department of Paediatrics University Hospitals Leuven Louvain Belgium;
Institute for Medical and Human Genetics Charité Universit?tsmedizin Berlin Berlin Germany;
Ferguson-Smith Department of Clinical Genetics Yorkhill Hospital Glasgow United Kingdom;
Ferguson-Smith Department of Clinical Genetics Yorkhill Hospital Glasgow United Kingdom;
Department of Clinical Genetics Academic Medical Center Amsterdam Netherlands;
Department of Clinical Genetics Rigshospitalet University Hospital of Copenhagen Copenhagen;
Danish Epilepsy Centre Dianalund Kolonivej 7 4293 Dianalund Denmark Institute for Regional;
Institute for Human Genetics University Medicine Greifswald Greifswald Germany Interfaculty;
Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular;
Max Planck Institute for Molecular Genetics Berlin Germany;
Department of Human Genetics Radboud University Medical Centre Nijmegen Netherlands Department;
Women and Children's Division Department of Clinical Neurosciences for Children University;
Department of Clinical Genetics Rigshospitalet University Hospital of Copenhagen Copenhagen;
Applied Human Molecular Genetics Kennedy Center Copenhagen University Hospital Rigshospitalet Gl;
Department of Human Genetics Radboud University Medical Centre Nijmegen Netherlands;
机译:X连锁先天性上睑下垂和相关的智力障碍,身材矮小,小头畸形,c裂,手指和生殖器异常定义了新型Xq25q26复制综合征
机译:X连锁性腺功能减退,男性乳房发育不全,智力障碍,身材矮小和肥胖症候群中Xq27.3-q28区域(包括FMR1基因)重复
机译:先天性掌骨假性关节炎,pa裂,身材矮小,骨龄增高和外翻足:新综合症或Devriendt综合症的变体?
机译:家族性Xp11.22微缺失包括SHROOM4和CLCN5与智力障碍身材矮小小头畸形和Dent疾病有关:一例病例报告
机译:X连锁先天性上睑下垂和相关的智力障碍,身材矮小,小头畸形,c裂,手指和生殖器异常定义了新型Xq25q26复制综合征