Associated Papers
Characterization of the renal phenotype in RMND1-related mitochondrial disease.
Shayota BJ et al.
Molecular Genetics & Genomic Medicine, 2019
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
Broenen E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2019
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N et al.
Pediatric Neurology, 2017
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Ng YS et al.
Journal of Medical Genetics, 2016
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
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