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Cardiac autonomic function in type 1 and type 2 myotonic dystrophy. [electronic resource] by
- Bienias, Piotr
- Łusakowska, Anna
- Ciurzyński, Michał
- Rymarczyk, Zuzanna
- Irzyk, Katarzyna
- Konwerski, Michał
- Ciąpała, Kamil
- Kowalski, Paweł
- Kamińska, Anna
- Pruszczyk, Piotr
Producer: 20180309
In:
Clinical autonomic research : official journal of the Clinical Autonomic Research Society vol. 27
Availability: No items available.
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G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child. [electronic resource] by
- Pronicki, Maciej
- Sykut-Cegielska, Jolanta
- Matyja, Ewa
- Musialowicz, Jacek
- Karczmarewicz, Elzbieta
- Tonska, Katarzyna
- Piechota, Janusz
- Piekutowska-Abramczuk, Dorota
- Kowalski, Pawel
- Bartnik, Ewa
Producer: 20080520
In:
Folia neuropathologica vol. 45
Availability: No items available.
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12.
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Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy. [electronic resource] by
- Kalinska-Bienias, Agnieszka
- Pollak, Agnieszka
- Kowalewski, Cezary
- Lechowicz, Urszula
- Stawinski, Piotr
- Gergont, Aleksandra
- Kosinska, Joanna
- Pronicka, Ewa
- Kowalski, Pawel
- Wozniak, Katarzyna
- Ploski, Rafal
Producer: 20180605
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. [electronic resource] by
- Pronicka, Ewa
- Weglewska-Jurkiewicz, Anna
- Pronicki, Maciej
- Sykut-Cegielska, Jolanta
- Kowalski, Pawel
- Pajdowska, Magdalena
- Jankowska, Irena
- Kotulska, Katarzyna
- Kalicinski, Piotr
- Jakobkiewicz-Banecka, Joanna
- Wegrzyn, Grzegorz
Producer: 20110712
In:
Medical science monitor : international medical journal of experimental and clinical research vol. 17
Availability: No items available.
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15.
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A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency. [electronic resource] by
- Pronicki, Maciej
- Kowalski, Paweł
- Piekutowska-Abramczuk, Dorota
- Taybert, Joanna
- Karkucinska-Wieckowska, Agnieszka
- Szymanska-Debinska, Tamara
- Karczmarewicz, Elzbieta
- Pajdowska, Magdalena
- Migdal, Marek
- Milewska-Bobula, Bogumila
- Sykut-Cegielska, Jolanta
- Popowska, Ewa
Producer: 20100712
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 14
Availability: No items available.
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16.
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Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. [electronic resource] by
- Pronicka, Ewa
- Węglewska-Jurkiewicz, Anna
- Taybert, Joanna
- Pronicki, Maciej
- Szymańska-Dębińska, Tamara
- Karkucińska-Więckowska, Agnieszka
- Jakóbkiewicz-Banecka, Joanna
- Kowalski, Paweł
- Piekutowska-Abramczuk, Dorota
- Pajdowska, Magdalena
- Socha, Piotr
- Sykut-Cegielska, Jolanta
- Węgrzyn, Grzegorz
Producer: 20110505
In:
Journal of applied genetics vol. 52
Availability: No items available.
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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation. [electronic resource] by
- Pronicka, Ewa
- Piekutowska-Abramczuk, Dorota
- Szymańska-Dębińska, Tamara
- Bielecka, Liliana
- Kowalski, Paweł
- Luczak, Sylwia
- Karkucińska-Więckowska, Agnieszka
- Migdał, Marek
- Kubalska, Jolanta
- Zimowski, Janusz
- Jamroz, Ewa
- Wierzba, Jolanta
- Sykut-Cegielska, Jolanta
- Pronicki, Maciej
- Zaremba, Jacek
- Krajewska-Walasek, Małgorzata
Producer: 20140715
In:
Mitochondrion vol. 13
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18.
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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction. [electronic resource] by
- Piekutowska-Abramczuk, Dorota
- Kocyła-Karczmarewicz, Beata
- Małkowska, Maja
- Łuczak, Sylwia
- Iwanicka-Pronicka, Katarzyna
- Siegmund, Stephanie
- Yang, Hua
- Wen, Quan
- Hoang, Quan V
- Silverman, Ronald H
- Kowalski, Paweł
- Szczypińska, Olga
- Czornak, Kamila
- Zimowski, Janusz
- Płoski, Rafał
- Pilch, Jacek
- Ciara, Elżbieta
- Zaremba, Jacek
- Krajewska-Walasek, Małgorzata
- Schon, Eric A
- Pronicka, Ewa
Producer: 20160512
In:
JIMD reports vol. 27
Availability: No items available.
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The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. [electronic resource] by
- Piekutowska-Abramczuk, Dorota
- Kaliszewska, Magdalena
- Sułek, Anna
- Jurkowska, Natalia
- Ołtarzewski, Mariusz
- Jabłońska, Ewa
- Trubicka, Joanna
- Głowacka, Aleksandra
- Ciara, Elżbieta
- Kowalski, Paweł
- Langiewicz-Wojciechowska, Karolina
- Tesarova, Marketa
- Zeman, Jiri
- Kierdaszuk, Biruta
- Kuczyński, Dariusz
- Chmielewski, Dariusz
- Szymańska, Edyta
- Bakuła, Agnieszka
- Łusakowska, Anna
- Lipowska, Marta
- Brodacki, Bogdan
- Pera, Joanna
- Dorobek, Małgorzata
- Rydzanicz, Małgorzata
- Płoski, Rafał
- Chrzanowska, Krystyna Halina
- Bartnik, Ewa
- Placha, Grzegorz
- Kamińska, Anna
- Kostera-Pruszczyk, Anna
- Krajewska-Walasek, Małgorzata
- Tońska, Katarzyna
- Pronicka, Ewa
Producer: 20200427
In:
Mitochondrion vol. 47
Availability: No items available.
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20.
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Novel scintillating material 2-(4-styrylphenyl)benzoxazole for the fully digital and MRI compatible J-PET tomograph based on plastic scintillators. [electronic resource] by
- Wieczorek, Anna
- Dulski, Kamil
- Niedźwiecki, Szymon
- Alfs, Dominika
- Białas, Piotr
- Curceanu, Catalina
- Czerwiński, Eryk
- Danel, Andrzej
- Gajos, Aleksander
- Głowacz, Bartosz
- Gorgol, Marek
- Hiesmayr, Beatrix
- Jasińska, Bożena
- Kacprzak, Krzysztof
- Kamińska, Daria
- Kapłon, Łukasz
- Kochanowski, Andrzej
- Korcyl, Grzegorz
- Kowalski, Paweł
- Kozik, Tomasz
- Krzemień, Wojciech
- Kubicz, Ewelina
- Kucharek, Mateusz
- Mohammed, Muhsin
- Pawlik-Niedźwiecka, Monika
- Pałka, Marek
- Raczyński, Lech
- Rudy, Zbigniew
- Rundel, Oleksandr
- Sharma, Neha G
- Silarski, Michał
- Uchacz, Tomasz
- Wiślicki, Wojciech
- Zgardzińska, Bożena
- Zieliński, Marcin
- Moskal, Paweł
Producer: 20171219
In:
PloS one vol. 12
Availability: No items available.
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