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1 . Academic Journal
In-silico analysis of Thr767Ile pathogenic variant in the MSH6 gene in family with endometrial cancer
저자
by
Stembalska, Agnieszka
;
Klapecki, Jakub
;
Pławski, Andrzej
;
Karpinski, Paweł
.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
July 2019 238:54-57
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6 . Academic Journal
Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype
저자
by
Karpinski, Pawel
;
Myszka, Aleksander
;
Ramsey, David
;
Misiak, Blazej
;
Gil, Justyna
, et al.
소스
In
Cancer Epidemiology
2010 34(3):338-344
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7 . Academic Journal
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
저자
by
Stembalska, Agnieszka
;
Rydzanicz, Małgorzata
;
Klaniewska, Magdalena
;
Dudarewicz, Lech
;
Pollak, Agnieszka
, et al.
소스
Genes
. Aug2022, Vol. 13 Issue 8, p1339-N.PAG. 8p.
Web of Science
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7 . Academic Journal
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
저자
by
Stembalska, Agnieszka
;
Rydzanicz, Małgorzata
;
Walas, Wojciech
;
Gasperowicz, Piotr
;
Pollak, Agnieszka
, et al.
소스
Genes
. May2022, Vol. 13 Issue 5, p725-725. 8p.
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7 . Academic Journal
The role of genetic counselling in oncology.
저자
by
Stembalska, Agnieszka
;
Pesz, Karolina
.
소스
Nowotwory
. 2022, Vol. 72 Issue 3, p207-210. 4p.
Scopus
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4 . Academic Journal
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.
저자
by
Paprocka, Justyna
;
Hutny, Michał
;
Hofman, Jagoda
;
Tokarska, Agnieszka
;
Kłaniewska, Magdalena
, et al.
소스
Frontiers in Neurology; 1/4/2022, Vol. 13, p1-17, 17p
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7 . Academic Journal
Znaczenie kliniczne wczesnej diagnostyki zespołu Pradera-Williego – historia trzech chorych
저자
by
Stembalska, Agnieszka
;
Śmigiel, Robert
.
소스
In
Pediatria Polska
2009 84(1):88-94
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4 . Academic Journal
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
저자
by
Stembalska, Agnieszka
;
Dudarewicz, Lech
;
Śmigiel, Robert
.
소스
Advances in Clinical & Experimental Medicine; Jun2021, Vol. 30 Issue 6, p641-647, 7p
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5 . Academic Journal
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
저자
by
Nguyen-Dumont, Tu
;
Karpinski, Pawel
;
Sasiadek, Maria M.
;
Akopyan, Hayane
;
Steen, Jason A.
, et al.
소스
Genetics Research
. 5/21/2020, p1-7. 7p. 4 Charts.
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7 . Academic Journal
Presentation of clinical features of Silver-Russel-like syndrome caused by 9.9 Mbp deletion 8q11.21-q12.1: the first Polish case.
저자
by
Stembalska, Agnieszka
;
Stal, Aleksander
.
소스
Polish Archives of Internal Medicine; Apr2022, Vol. 132 Issue 4, p1-3, 3p
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