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Home > For Clinicians > List Of Publications > Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

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A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients

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