P. Halat

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

A. Jezela-Stanek, M. Rydzanicz, M. Jędrzejowska, 2018, Muscle & nerve.

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

M. Litwin, Łukasz Obrycki, A. Wierzbicka, 2021, The Journal of Steroid Biochemistry and Molecular Biology.

Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2

R. Płoski, E. Ciara, D. Rokicki, 2015, Molecular genetics and metabolism reports.

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

R. Płoski, M. Rydzanicz, M. Pronicki, 2016, Journal of Translational Medicine.

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

R. Płoski, M. Rydzanicz, M. Pronicki, 2016, Journal of Translational Medicine.

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

M. Pronicki, E. Ciara, D. Piekutowska-Abramczuk, 2019, International journal of pediatric otorhinolaryngology.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

M. Litwin, M. Konrad, A. Wierzbicka, 2017, Journal of Applied Genetics.

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

R. Płoski, M. Pronicki, J. Książyk, 2016, Molecular genetics and metabolism reports.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

M. Litwin, M. Konrad, A. Wierzbicka, 2017, Journal of Applied Genetics.