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Co-authors
(35)
Dorota Jurkiewicz
4
Elzbieta Ciara (Elżbieta Ciara)
4
Dorota Piekutows...
4
Jolanta Sykut-Cegielska
3
Maria Borucka-Mankiewicz
3
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BBA-BIOENERGETICS
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Authors
Paweł Kowalski
Paweł Kowalski,Molecular Biology,Biochemistry,Genetics & Genealogy
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Paweł Kowalski
Publications:
6
|
Citations:
11
Fields:
Molecular Biology
,
Biochemistry
,
Genetics & Genealogy
View FAQ about top research areas and Fields of study
Collaborated with
35 co-authors
from 2006 to 2011
|
Cited by
46 authors
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Publications
(6)
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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
(
Citations: 2
)
Ewa Pronicka
,
Anna Węglewska-Jurkiewicz
,
Joanna Taybert
,
Maciej Pronicki
,
Tamara Szymańska-Dębińska
,
Agnieszka Karkucińska-Więckowska
,
Joanna Jakóbkiewicz-Banecka
,
Paweł Kowalski
,
Dorota Piekutowska-Abramczuk
,
Magdalena Pajdowska
,
Piotr Socha
,
Jolanta Sykut-Cegielska
http://academic.research.microsoft.com/io.ashx?type=5&id=47617211&selfId1=27998971&selfId2=0&maxNumber=12&query=
Journal:
Journal of Applied Genetics - J APPL GENETICS
, vol. 52, no. 1, pp. 61-66, 2011
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency
Maciej Pronicki
,
Paweł Kowalski
,
Dorota Piekutowska-Abramczuk
,
Joanna Taybert
,
Agnieszka Karkucinska-Wieckowska
,
Tamara Szymanska-Debinska
,
Elzbieta Karczmarewicz
,
Magdalena Pajdowska
,
Marek Migdal
,
Bogumila Milewska-Bobula
,
Jolanta Sykut-Cegielska
,
Ewa Popowska
Journal:
European Journal of Paediatric Neurology - EUR J PAEDIATR NEUROL
, vol. 14, no. 3, pp. 253-260, 2010
Detection of single large-scale mitochondrial DNA deletions by MLPA technique
D. Piekutowska-Abramczuk
,
A. Tanska
,
P. Kowalski
,
K. Tonska
,
E. Ciara
,
D. Jurkiewicz
,
M. Borucka-Mankiewicz
,
S. Luczak
,
M. Pelc
,
J. Sykut-Cegielska
Journal:
Biochimica Et Biophysica Acta-bioenergetics - BBA-BIOENERGETICS
, vol. 1797, pp. 49-50, 2010
The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency
Sylwia Łuczak
,
Dorota Piekutowska-Abramczuk
,
Paweł Kowalski
,
Elżbieta Ciara
,
Dorota Jurkiewicz
,
Maria Borucka-Mankiewicz
,
Anna Tańska
,
Magdalena Pelc
,
Joanna Trubicka
,
Małgorzata Krajewska-Walasek
Journal:
Biochimica Et Biophysica Acta-bioenergetics - BBA-BIOENERGETICS
, vol. 1797, pp. 52-52, 2010
Molecular studies of Polish patients with respiratory chain complex I deficiency
Paweł Kowalski
,
Dorota Piekutowska-Abramczuk
,
Ewa Popowska
,
Elżbieta Karczmarewicz
,
Liliana Bielecka
,
Edyta Kryśkiewicz
,
Ewa Jamroz
,
Jacek Pilch
,
Elżbieta Ciara
,
Dorota Jurkiewicz
Journal:
Biochimica Et Biophysica Acta-bioenergetics - BBA-BIOENERGETICS
, vol. 1797, pp. 51-51, 2010
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Citations
(11 times by 11 publications)
The RICH detectors for the upgraded LHCb experiment
Graham Y. Kim
Journal:
Nuclear Instruments & Methods in Physics Research Section A-accelerators Spectrometers Detectors and Associated Equipment - NUCL INSTRUM METH PHYS RES A
, vol. 639, no. 1, pp. 278-281, 2011
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer
Xavier Matabosch
,
Lee Ying
,
Montserrat Serra
,
Christopher A. Wassif
,
Forbes D. Porter
,
Cedric Shackleton
,
Gordon Watson
Journal:
Journal of Steroid Biochemistry and Molecular Biology - J STEROID BIOCHEM MOL BIOL
, vol. 122, no. 5, pp. 303-309, 2010
High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients
(
Citations: 2
)
Dorota Piekutowska-Abramczuk
,
Ewa Popowska
,
Maciej Pronicki
,
Elzbieta Karczmarewicz
,
Dorota Tylek-Lemanska
,
Jolanta Sykut-Cegielska
,
Tamara Szymanska-Dembinska
,
Liliana Bielecka
,
Malgorzata Krajewska-Walasek
,
Ewa Pronicka
Journal:
European Journal of Paediatric Neurology - EUR J PAEDIATR NEUROL
, vol. 13, no. 2, pp. 146-153, 2009
X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene
Aleksandra Jezela-Stanek
,
Chris Fisher
,
Maria Szarras-Czapnik
,
Dorota Olczak-Kowalczyk
,
Richard J. Gibbons
,
Jolanta Słowikowska-Hilczer
,
Małgorzata Krajewska-Walasek
Journal:
Clinical Dysmorphology - CLIN DYSMORPHOL
, vol. 18, no. 3, pp. 168-171, 2009
Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature
(
Citations: 2
)
A. Jezela-Stanek
,
E. Ciara
,
E. M. Malunowicz
,
L. Korniszewski
,
D. Piekutowska-Abramczuk
,
E. Popowska
,
M. Krajewska-Walasek
Journal:
European Journal of Medical Genetics - EUR J MED GENET
, vol. 51, no. 2, pp. 124-140, 2008
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