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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
UploadNeuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
UploadPostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
UploadDeciphering exome sequencing data: Bringing mitochondrial DNA variants to light
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