Work

Phenotypic and genotypic findings in Joubert syndrome: A case series in Saudi Arabia

Year: 2026

Type: article

Study design: Case Report

Source: Saudi Journal of Ophthalmology

DOI: 10.4103/sjopt.sjopt_251_25

Authors: Faeeqah Almahmoudi, Ziad M. Bukhari, Albaraa T. Alfaraidi, Enam Danish

Institutions: King Fahd Armed Forces Hospital, King Fahad Hospital Jeddah, King Abdulaziz Medical City, National Guard Health Affairs

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7160022704

FWCI:

Cites: 25

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