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X
Piekutowska‐Abramczuk, D
115  Ergebnisse:
Personensuche X
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1

A de novo loss‐of‐function DYNC1H1 mutation in a patient wi..:

Szczałuba, K. ; Szymańska, K. ; Rydzanicz, M....
Clinical Genetics.  93 (2017)  5 - p. 1107-1108 , 2017
Link: https://doi.org/10.1111/..
 
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2

Difficulties in recognition of pyruvate dehydrogenase compl..:

Ciara, E. ; Rokicki, D. ; Halat, P....
Molecular Genetics and Metabolism Reports.  7 (2016)  - p. 70-76 , 2016
Link: https://doi.org/10.1016/..
 
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3

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in tw..:

Piekutowska-Abramczuk, D. ; Pronicki, M. ; Strawa, K....
Clinical Genetics.  85 (2013)  6 - p. 573-577 , 2013
Link: https://doi.org/10.1111/..
 
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4

Proton MR Spectroscopy in Patients with Leigh Syndrome:

Jurkiewicz, E. ; Chełstowska, S. ; Pakuła-Kościesza, I....
The Neuroradiology Journal.  24 (2011)  3 - p. 424-428 , 2011
Link: https://doi.org/10.1177/..
 
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5

Detection of single large-scale mitochondrial DNA deletions..:

Piekutowska-Abramczuk, D. ; Tanska, A. ; Kowalski, P....
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1797 (2010)  - p. 49-50 , 2010
Link: https://doi.org/10.1016/..
 
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6

SURF1 missense mutations promote a mild Leigh phenotype:

Piekutowska‐Abramczuk, D ; Magner, M ; Popowska, E...
Clinical Genetics.  76 (2009)  2 - p. 195-204 , 2009
Link: https://doi.org/10.1111/..
 
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7

Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 P..:

Jezela-Stanek, A. ; Ciara, E. ; Malunowicz, E.M....
European Journal of Medical Genetics.  51 (2008)  2 - p. 124-140 , 2008
Link: https://doi.org/10.1016/..
 
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8

Light and electron microscopy characteristics of the muscle..:

Pronicki, M ; Matyja, E ; Piekutowska-Abramczuk, D...
Journal of Clinical Pathology.  61 (2007)  4 - p. 460-466 , 2007
Link: https://doi.org/10.1136/..
 
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9

SLOS carrier frequency in Poland as determined by screening..:

Ciara, E. ; Popowska, E. ; Piekutowska-Abramczuk, D....
European Journal of Medical Genetics.  49 (2006)  6 - p. 499-504 , 2006
Link: https://doi.org/10.1016/..
 
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10

Efficacy and Safety of Ketogenic Diet Treatment in Pediatri..:

Wesół-Kucharska, Dorota ; Greczan, Milena ; Kaczor, Magdalena...
Nutrients.  16 (2024)  6 - p. 812 , 2024
Link: https://doi.org/10.3390/..
 
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11

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation.  43 (2022)  3 - p. 403-419 , 2022
Link: https://doi.org/10.1002/..
 
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12

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain.  145 (2022)  5 - p. 1624-1631 , 2022
Link: https://doi.org/10.1093/..
 
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13

Genetic Profile of Left Ventricular Noncompaction Cardiomyo..:

Piekutowska-Abramczuk, Dorota ; Paszkowska, Agata ; Ciara, Elżbieta...
Genes.  13 (2022)  8 - p. 1334 , 2022
Link: https://doi.org/10.3390/..
 
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14

The NBN founder mutation—Evidence for a country specific di..:

Chrzanowska, Krystyna H. ; Seemanova, Eva ; Varon, Raymonda...
Cancer Reports.  6 (2022)  2 - p. , 2022
Link: https://doi.org/10.1002/..
 
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15

Clinical Presentation of Left Ventricular Noncompaction Car..:

Paszkowska, Agata ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta...
Genes.  13 (2022)  3 - p. 477 , 2022
Link: https://doi.org/10.3390/..
 
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