Associated Papers
Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction.
Birnbaum R et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2026
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Barbosa-Gouveia S et al.
Genes, 2020
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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