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Author/Creator Halat, Paulina

1. Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. Issue 208 (April 2021)

Authors:
Kowalska, Ewa; Rola, Rafał; Wójcik, Marek; Łaszcz, Natalia; Płudowski, Paweł; Wierzbicka, Aldona; Janiec, Agnieszka; Książyk, Janusz; Halat, Paulina; Ciara, Elżbieta; Obrycki, Łukasz; Pronicka, Ewa; Litwin, Mieczysław
Journal:
Journal of steroid biochemistry and molecular biology
Issue:
Issue 208(2021)
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Record Type:
Journal Article
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2. 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. (June 2019)

Authors:
Iwanicka-Pronicka, Katarzyna; Ciara, Elżbieta; Piekutowska-Abramczuk, Dorota; Halat, Paulina; Pajdowska, Magdalena; Pronicki, Maciej
Journal:
International journal of pediatric otorhinolaryngology
Issue:
Volume 121(2019:Jun.)
Page Start:
143
Record Type:
Journal Article
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3. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. Issue 1 (December 2016)

Authors:
Pronicka, Ewa; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Trubicka, Joanna; Rokicki, Dariusz; Karkucińska-Więckowska, Agnieszka; Pajdowska, Magdalena; Jurkiewicz, Elżbieta; Halat, Paulina; Kosińska, Joanna; Pollak, Agnieszka; Rydzanicz, Małgorzata; Stawinski, Piotr; Pronicki, Maciej; Krajews...
Journal:
Journal of translational medicine
Issue:
Volume 14:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. Issue 1 (26th October 2018)

Authors:
Jędrzejowska, Maria; Dębek, Emilia; Kowalczyk, Bartłomiej; Halat, Paulina; Kostera‐Pruszczyk, Anna; Ciara, Elżbieta; Jezela‐Stanek, Aleksandra; Rydzanicz, Małgorzata; Gasperowicz, Piotr; Gos, Monika
Journal:
Muscle & nerve
Issue:
Volume 59:Issue 1(2019)
Page Start:
129
Record Type:
Journal Article
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