Mediclub Hospital 1

1. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
2. Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia
3. GM1-Gangliosidosis Type III Associated Parkinsonism
4. Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism
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