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A Case Series of Joubert Syndrome Evaluated with Whole Exome Sequencing and the Utility of Optical Genome Mapping in the Diagnosis

Aslihan Kiraz, Murat Erdogan,Burhan Balta,Hakan Gumus, Mehmet Burak Mutlu, Nurana Mammadova,Firat Ozcelik, Izem Olcay Sahin,Ahmet Sami Guven,Sefer Kumandas, Ahmet Savranlar,Filiz Karaman,Huseyin Per,Munis Dundar

Neurogenetics（2025）

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关键词
Joubert syndrome,Exome sequencing,Optical genome mapping,Case series
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