Associated Papers
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Suppl_Table_6_FINAL.pdf
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB et al.
Human Molecular Genetics, 2019
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ et al.
Human Molecular Genetics, 2015
Pathogenic mutations of nuclear genes associated with mitochondrial disorders.
Zhu X et al.
Acta Biochimica Et Biophysica Sinica, 2009
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
Miller C et al.
Annals of Neurology, 2004
Select a paper to view details