Paulina Halat

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

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Ewa Pronicka, Elżbieta Ciara, Paulina Halat et al. · Journal of Applied Genetics · 2017 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Elżbieta Ciara, Dariusz Rokicki, Paulina Halat et al. · Molecular Genetics and Metabolism Reports · 2016 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Edyta Szymańska, Dariusz Rokicki, Urszula Wątrobińska et al. · Molecular Genetics and Metabolism Reports · 2015 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The remarkable phenotypic variability of the p.Arg269HiS variant in the <i>TRPV4</i> gene

Maria Jędrzejowska, Emilia Dębek, Bartłomiej Kowalczyk et al. · Muscle & Nerve · 2018 · 14 citations

Life Sciences, Genetics, Molecular Genetics +16