Associated Papers
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan SA et al.
Clinical Case Reports, 2018
29988648 (PubMed )
Supplement: CCR3-6-1208-s002.xlsx › Table_S1
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M et al.
Metabolic Brain Disease, 2017
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Baertling F et al.
Neurogenetics, 2015
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