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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
UploadMarfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
Download from doi.orgSkeletal abnormalities are common features in Aymé‐Gripp syndrome
UploadNovel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
UploadClinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
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