MOESM1 of New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
Ewa Pronicka(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw), Paulina Halat(Children's Memorial Health Institute), Małgorzata Rydzanicz(Medical University of Warsaw), Joanna Kosińska(Medical University of Warsaw), Elżbieta Ciara(Children's Memorial Health Institute), Agnieszka Pollak(Institute of Physiology and Pathology of Hearing), Elżbieta Jurkiewicz(Children's Memorial Health Institute), Magdalena Pajdowska(Children's Memorial Health Institute), Dorota Piekutowska-Abramczuk, Małgorzata Krajewska-Walasek, Dariusz Rokicki, Piotr Stawinski, Maciej Pronicki(Children's Memorial Health Institute), Agnieszka Karkucińska-Więckowska, Joanna Trubicka(Children's Memorial Health Institute)
Cited by 0
Related Papers
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
|Nature Genetics|1995|1.1k
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
|Journal of Translational Medicine|2016|233
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
|Genome Medicine|2022|215