机译:HNRNPU HNRNPU中的Novo突变导致神经发育综合征
Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation TrustSheffield UK;
Department of Clinical GeneticsUniversity Hospitals of LeicesterLeicester UK;
Northern Ireland Regional Genetics CentreBelfast Health and Social Care Trust/City HospitalBelfast;
Manchester Centre for Genomic MedicineSaint Mary's HospitalManchester UK;
Murdoch Children's Research InstituteMelbourneVictoria Australia;
Murdoch Children's Research InstituteMelbourneVictoria Australia;
Sheffield Diagnostic Genetics ServiceSheffield Children's NHS Foundation TrustSheffield UK;
Broad Center for Mendelian GenomicsCambridge Massachusetts;
DDD StudyWellcome Trust Sanger InstituteHinxton Cambridge UK;
Sheffield Clinical Genetics ServiceSheffield Children's NHS Foundation TrustSheffield UK;
aggressive outbursts; behavior; HNRNPU; intellectual disability; seizures; trio exome sequencing;
机译:HNRNPU HNRNPU中的Novo突变导致神经发育综合征
机译:HNRNPU HNRNPU中函数变体缺失的临床和分子特征
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机译:神经发育障碍中的Novo畸形突变
机译:HNRNPU中的从头突变导致神经发育综合症
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