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Year Number of Results
2007 1
2008 1
2012 2
2014 1
2015 3
2016 3
2017 5
2018 4
2019 4
2021 3
2022 4
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28 results
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Page 1
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Szczałuba K, Rydzanicz M, Walczak A, Kosińska J, Koppolu A, Biernacka A, Iwanicka-Pronicka K, Grajkowska W, Jurkiewicz E, Kowalczyk P, Płoski R. Szczałuba K, et al. Among authors: iwanicka pronicka k. Diagnostics (Basel). 2021 Jul 15;11(7):1269. doi: 10.3390/diagnostics11071269. Diagnostics (Basel). 2021. PMID: 34359351 Free PMC article.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA. Piekutowska-Abramczuk D, et al. Among authors: iwanicka pronicka k. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429571 Free PMC article.
Analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K, Gubrynowicz R, Iwanicka-Pronicka K, Tylki-Szymańska A. Szklanny K, et al. Among authors: iwanicka pronicka k. Orphanet J Rare Dis. 2016 Jul 15;11(1):99. doi: 10.1186/s13023-016-0480-5. Orphanet J Rare Dis. 2016. PMID: 27417441 Free PMC article.
Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?
Piekutowska-Abramczuk D, Rutyna R, Czyżyk E, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Stachowicz S, Strzemecka J, Guz W, Gawroński M, Kosierb A, Ligas J, Puchala M, Drelich-Zbroja A, Bednarska-Makaruk M, Dąbrowski W, Ciara E, Książyk JB, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: iwanicka pronicka k. Metab Brain Dis. 2018 Feb;33(1):191-199. doi: 10.1007/s11011-017-0122-1. Epub 2017 Nov 7. Metab Brain Dis. 2018. PMID: 29116603 Free PMC article.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: iwanicka pronicka k. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Long-term outcome of patients with alpha-mannosidosis - A single center study.
Lipiński P, Różdżyńska-Świątkowska A, Iwanicka-Pronicka K, Perkowska B, Pokora P, Tylki-Szymańska A. Lipiński P, et al. Among authors: iwanicka pronicka k. Mol Genet Metab Rep. 2021 Dec 9;30:100826. doi: 10.1016/j.ymgmr.2021.100826. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 35242565 Free PMC article.
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
Jezela-Stanek A, Murcia PV, Jurkiewicz D, Iwanicka-Pronicka K, Jędrzejowska M, Krajewska-Walasek M, Płoski R. Jezela-Stanek A, et al. Among authors: iwanicka pronicka k. Clin Dysmorphol. 2019 Jul;28(3):126-130. doi: 10.1097/MCD.0000000000000277. Clin Dysmorphol. 2019. PMID: 30921088
28 results