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1 . Academic Journal
A
de novo
loss‐of‐function
DYNC1H1
mutation in a patient with parkinsonian features and a favourable response to levodopa.
저자
by
Szczałuba, K.
;
Rydzanicz, M.
;
Walczak, A.
;
Kosińska, J.
;
Jacoszek, A.
, et al.
소스
Clinical Genetics
. May2018, Vol. 93 Issue 5, p1107-1108. 3p. 1 Graph.
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Proton MR Spectroscopy in Patients with Leigh Syndrome.
저자
by
Jurkiewicz, E.
;
CheŁStowska, S.
;
PakuŁA-KoŚCiesza, I.
;
Malczyk, K.
;
Nowak, K.
, et al.
소스
Neuroradiology Journal
(NEURORADIOL J), Jun2011; 24(3): 424-428. (5p)
EBSCOHost PDF
Web of Science
Scopus
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7 . Academic Journal
MOLECULAR CHARACTERIZATION OF POLISH PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: NOVEL AND RECURRENT LDLR GENE MUTATIONS
저자
by
Chmara, M.
;
Kubalska, J.
;
Bednarska-Makaruk, M.
;
Wegrzyn, A.
;
Pronicka, E.
, et al.
소스
In
Atherosclerosis (Supplements) (Component)
2008 9(1):111-111
Full Text (ScienceDirect)
Scopus
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7 . Academic Journal
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy
저자
by
Piekutowska-Abramczuk, D.
;
Pronicki, M.
;
Strawa, K.
;
Karkucińska-Więckowska, A.
;
Szymańska-Dębińska, T.
, et al.
소스
Clinical Genetics
. Jun 01, 2014 85(6):573-577
Web of Science
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7 . Academic Journal
Novel c. 191C>G (p. Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
저자
by
Piekutowska-Abramczuk, D.
;
Pronicki, M.
;
Strawa, K.
;
Karkucińska‐Więckowska, A.
;
Szymańska‐Dębińska, T.
, et al.
소스
Clinical Genetics
. Jun2014, Vol. 85 Issue 6, p573-577. 5p.
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
저자
by
Kusmierska, K.
;
Jansen, E.
;
Jakobs, C.
;
Szymanska, K.
;
Malunowicz, E.
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2009 Supplement, Vol. 32, p5-10, 6p
Web of Science
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7 . Academic Journal
SURF1 missense mutations promote a mild Leigh phenotype.
저자
by
Piekutowska-Abramczuk, D.
;
Magner, M.
;
Popowska, E.
;
Pronicki, M.
;
Karczmarewicz, E.
, et al.
소스
Clinical Genetics
. Aug2009, Vol. 76 Issue 2, p195-204. 10p. 1 Color Photograph, 3 Black and White Photographs, 1 Diagram, 3 Charts.
Web of Science
Scopus
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7 . Academic Journal
Hypoxanthine-guanine phosphoribosylotransferase deficiency-The spectrum of Polish mutations.
저자
by
Jurecka, A.
;
Popowska, E.
;
Tylki-Szymanska, A.
;
Kubalska, J.
;
Ciara, E.
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2008, Vol. 31, p447-451, 5p
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7 . Academic Journal
High frequency of missense mutations in glycogen storage disease type VI.
저자
by
Beauchamp, N.
;
Taybert, J.
;
Champion, M.
;
Layet, V.
;
Heinz-Erian, P.
, et al.
소스
Journal of Inherited Metabolic Disease; Oct2007, Vol. 30 Issue 5, p722-734, 13p
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7 . Academic Journal
Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
저자
by
Stolarski, B.
;
Pronicka, E.
;
Korniszewski, L.
;
Pollak, A.
;
Kostrzewa, G.
, et al.
소스
Clinical Genetics
. Oct2006, Vol. 70 Issue 4, p348-354. 7p. 2 Charts, 1 Graph.
Web of Science
Scopus
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