Work

Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Year: 2020

Type: article

Study design: Observational Study

Source: Clinical Genetics

DOI: 10.1111/cge.13862

Authors: Conor I. MacKay, Kingsley Wong, Scott T. Demarest, Tim A. Benke, Jenny Downs, Helen Leonard

Institutions: The Kids Research Institute Australia, The University of Western Australia, Children's Hospital Colorado, University of Colorado Denver, Curtin University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: International Foundation for CDKL5 Research, National Health and Medical Research Council

Award: Child disability:understanding determinants and improving outcomes

OpenAlex ID: W3092161933

FWCI: 2.455

Cites: 36

Cited by: 41

Related to: 10