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机译:划分MIDXQ28 - 复制综合征MIDXQ28 - 复制综合征远端到MECP2 MECP2和近端为RAB39B RAB39B基因
Medical Genetics UnitBambino Gesù Pediatric Hospital IRCCSRome Italy;
Medical Genetics Unit Casa Sollievo della Sofferenza IRCCSSan Giovanni Rotondo (FG)Italy;
Medical Genetics Residency ProgrammeTor Vergata UniversityRome Italy;
Medical Genetics UnitA.O.R.N. San PioBenevento Italy;
Universit?tsklinikum EssenEssen Germany;
Department of GeneticsNecker‐Enfants Malades HospitalParis France;
Medical Genetics Unit Casa Sollievo della Sofferenza IRCCSSan Giovanni Rotondo (FG)Italy;
Universit?tsklinikum EssenEssen Germany;
Neuroradiology UnitUniversity of L'AquilaL'Aquila Italy;
Medical Genetics UnitPoliclinico Tor VergataRome Italy;
Universit?tsklinikum EssenEssen Germany;
Neuroradiology Department of Biomedicine and PreventionTor Vergata University RomeRome Italy;
Department of GeneticsNecker‐Enfants Malades HospitalParis France;
Universit?tsklinikum EssenEssen Germany;
Medical Genetics Unit Casa Sollievo della Sofferenza IRCCSSan Giovanni Rotondo (FG)Italy;
Institute of Human GeneticsUniversity of Erlangen‐NurembergErlangen Germany;
Medical Genetics UnitA.O.R.N. San PioBenevento Italy;
Medical Genetics LaboratoryBambino Gesù Pediatric Hospital IRCCSRome Italy;
Universit?tsklinikum EssenEssen Germany;
Childhood and Adolescence Neuropsychiatry SectionUniversity of SassariSassari Italy;
Medical Genetics UnitA.O.R.N. San PioBenevento Italy;
Human Molecular Genomics GroupMax Planck Institute for Molecular GeneticsBerlin Germany;
Medical Genetics UnitPoliclinico Tor VergataRome Italy;
Department of Developmental NeuroscienceIRCCS “Stella Maris Foundation”Pisa Italy;
Medical Genetics Residency ProgrammeTor Vergata UniversityRome Italy;
Medical Genetics Unit Casa Sollievo della Sofferenza IRCCSSan Giovanni Rotondo (FG)Italy;
corpus callosum and cerebellar vermis hypoplasia; developmental delay/intellectual disability; microcephaly; Xq28‐duplication;
机译:划分MIDXQ28 - 复制综合征MIDXQ28 - 复制综合征远端到MECP2 MECP2和近端为RAB39B RAB39B基因
机译:进一步描绘59例法国男性患者的MECP2重复综合征表型,特别关注形态和神经功能
机译:饮食引起的男孩MECP2复制综合征的癫痫痉挛:遗传性癫痫发病机理的见解。
机译:Tbx1在22q11.2删除和复制综合征小鼠模型中的遗传功能。
机译:家族性间质Xq27.3q28重复包括FMR1基因但不包含MECP2基因导致新的综合征性智力障碍
机译:进一步描绘了59例法国男性患者的MECP2重复综合征表型,特别关注了形态学和神经功能