Work

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Year: 2011

Type: article

Study design: Case Report

Source: Human Genetics

DOI: 10.1007/s00439-011-1047-0

Authors: Shin Hayashi, Nobuhiko Okamoto, Yasutsugu Chinen, Jun-ichi Takanashi, Yoshio Makita, Akira Hata, Issei Imoto, Johji Inazawa

Institutions: Tokyo Medical and Dental University, Osaka Women's and Children's Hospital, University of the Ryukyus, Kameda Medical Center, Asahikawa Medical University, Chiba University, Tokushima 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: Tokyo Medical and Dental University, Japan Society for the Promotion of Science, Core Research for Evolutional Science and Technology

Award: Construction of predictive algorithm for therapeutic effect and exploration of molecular targets in esophageal cancer by the next-generation integrated genome analysis

OpenAlex ID: W1985677956

FWCI: 1.57

Cites: 26

Cited by: 46

Related to: 10