Work

Explaining Rare Mendelian Phenotypes: Exome Sequencing and Functional Analysis of Spondylometaphyseal Dysplasia With Cone-rod Dystrophy

Year: 2017

Type: dissertation

Author: Julie A. Jurgens

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2938890164

Cites: 47

Cited by: 1

Related to: 10