PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases
Agnieszka Madej-Pilarczyk(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Krystyńa Chrzańowska(University Medical Center Groningen), Jagoda Błaszkiewicz(Children's Memorial Health Institute), A Babameto-Laku(Mother Teresa Hospital), Beata Chałupczyńska(Children's Memorial Health Institute), Agata Cieślikowska(Children's Memorial Health Institute), Marzena Gawlik(Children's Memorial Health Institute), Dorota Wicher(Children's Memorial Health Institute)
Cited by 0
Related Papers
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