Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2021). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x
Subjects:
RNA Methylation and Modification in Gene Expression
(OpenAlex Topic)
Regulation of RNA Processing and Function
(OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders
(OpenAlex Topic)
Mutation
(MeSH)
Neurodevelopmental Disorders
(MeSH)
Publication Type:
Article
Unique ID:
10.1007/s00439-021-02412-x
PMID:
Journal:
Publication Date:
Data Source:
Scopus