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1 .
Four novel RSK2 mutations in females with Coffin–Lowry syndrome
저자
by
Ewa Popowska
;
Małgorzata Krajewska-Walasek
;
Dorota Jurkiewicz
;
Maria Gajdulewicz
;
Dorota Piekutowska-Abramczuk
, et al.
소스
European Journal of Medical Genetics
. 53:268-273
Full Text (Clinical Key)
Web of Science
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7 .
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency
저자
by
Joanna Taybert
;
Dorota Piekutowska-Abramczuk
;
Agnieszka Karkucinska-Wieckowska
;
Magdalena Pajdowska
;
Maciej Pronicki
, et al.
소스
European Journal of Paediatric Neurology
. 14:253-260
Full Text (Clinical Key)
Web of Science
Scopus
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7 .
Etiopatogeneza i zasady diagnostyki molekularnej zespołu Retta
저자
by
Dorota Jurkiewicz
;
Ewa Popowska
;
Małgorzata Krajewska-Walasek
;
Elżbieta Ciara
.
소스
Pediatria Polska
. 85:107-114
Scopus
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6 .
SURF1missense mutations promote a mild Leigh phenotype
저자
by
Elzbieta Karczmarewicz
;
Tamara Szymanska-Debinska
;
Maciej Pronicki
;
Ewa Popowska
;
Małgorzata Krajewska-Walasek
, et al.
소스
Clinical Genetics
. 76:195-204
Web of Science
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7 .
Hypoxanthine‐guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations
저자
by
Zita Krumina
;
Elżbieta Ciara
;
Anna Tylki-Szymańska
;
Ewa Popowska
;
Jolanta Kubalska
, et al.
소스
Journal of Inherited Metabolic Disease
. 31:447-451
Web of Science
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7 .
A case of Prader - Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)
저자
by
Ewa Popowska
;
Bozenna Goryluk-Kozakiewicz
;
Malgorzata Krajewska Walasek
;
Anna Gutkowska
;
Beata Bielińska
.
소스
Clinical Genetics
. 54:60-64
Web of Science
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7 .
Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
저자
by
Ewa Matyja
;
Wiesława Grajkowska
;
Tomasz Kmieć
;
Jolanta Sykut-Cegielska
;
Elzbieta Karczmarewicz
, et al.
소스
Journal of Clinical Pathology
Full Text (BMJ Journals)
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7 .
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations
저자
by
M Krajewska-Walasek
;
Elżbieta Ciara
;
Paweł Kowalski
;
Dorota Piekutowska-Abramczuk
;
Dorota Jurkiewicz
, et al.
소스
European Journal of Medical Genetics
. 49:499-504
Web of Science
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7 .
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies
저자
by
Bozenna Goryluk-Kozakiewicz
;
Aleksandra Jezela-Stanek
;
M Czerwiecka
;
K Spodar
;
Ewa Popowska
, et al.
소스
Clinical Genetics
. 69:77-85
Web of Science
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7 .
Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies
저자
by
Teresa Luszawska-Kutrzeba
;
Bozenna Goryluk-Kozakiewicz
;
Halina Bubała
;
Katarzyna Stefańska
;
Andrzej Kołtan
, et al.
소스
International Journal of Cancer
. 118:1269-1274
Full Text (Wiley)
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