Associated Papers
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.
Akkus N et al.
Molecular Genetics & Genomic Medicine, 2026
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S et al.
Human Molecular Genetics, 2014
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