Detalhe da pesquisa
1.
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
Genet Res (Camb);
102: e6, 2020 08 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32772980
2.
Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis.
Pharmacogenomics J;
18(4): 539-545, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29520081
3.
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
BMC Med Genet;
19(1): 12, 2018 01 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29351780
4.
Genetic Variation in One-Carbon Metabolism and Changes in Metabolic Parameters in First-Episode Schizophrenia Patients.
Int J Neuropsychopharmacol;
20(3): 207-212, 2017 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27932499
5.
[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases]. / Szybka diagnostyka najczestszych aneuploidii u plodu meaoda QF-PCR--analiza 100 przypadków.
Ginekol Pol;
86(9): 694-9, 2015 Sep.
Artigo
em Polonês
| MEDLINE
| ID: mdl-26665572
6.
[The 2nd conference 'Rare diseases not only in the curriculum', Szczecin - Wroclaw, 26 and 30 May 2015].
Wiad Lek;
68(3 pt 2): 417-418, 2015.
Artigo
em Polonês
| MEDLINE
| ID: mdl-28501846
7.
Effects of second-generation antipsychotics on selected markers of one-carbon metabolism and metabolic syndrome components in first-episode schizophrenia patients.
Eur J Clin Pharmacol;
70(12): 1433-41, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25291992
8.
Elevated homocysteine level in first-episode schizophrenia patients--the relevance of family history of schizophrenia and lifetime diagnosis of cannabis abuse.
Metab Brain Dis;
29(3): 661-70, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24682777
9.
Validation of the minisequencing method for detection of G1691A (Leiden) factor V mutation.
Gynecol Endocrinol;
29(4): 319-22, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23256575
10.
Pro12Ala PPAR γ2 gene polymorphism in PCOS women: the role of compounds regulating satiety.
Gynecol Endocrinol;
28(3): 195-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21827375
11.
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.
Am J Med Genet A;
155A(5): 1102-5, 2011 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21484999
12.
[The importance of pharmacogenetic tests in evaluation of the effectiveness of methotrexate treatment in rheumatoid arthritis (part 1)]. / Znaczenie badan farmakogenetycznych w efektywnosci leczenia metotreksatem chorych na reumatoidalne zapalenie stawów (czesc 1).
Postepy Hig Med Dosw (Online);
65: 195-206, 2011 Mar 30.
Artigo
em Polonês
| MEDLINE
| ID: mdl-21502696
13.
[The importance of pharmacogenetic tests in evaluation of the effectiveness of methotrexate treatment in rheumatoid arthritis (part 2)]. / Znaczenie badan farmakogenetycznych w efektywnosci leczenia metotreksatem chorych na reumatoidalne zapalenie stawów (czesc 2).
Postepy Hig Med Dosw (Online);
65: 207-15, 2011 Mar 30.
Artigo
em Polonês
| MEDLINE
| ID: mdl-21502697
14.
[The role of 1691G>A (Leiden) mutation in Factor V gene, 20210G>A in prothrombin gene and 677C>T in MTHFR gene in etiology of early pregnancy loss]. / Ocena roli mutacji 1691G>A (Leiden) w genie czynnika V, 20210G>A w genie protrombiny oraz 677C>T w genie MTHFR w etiologii wczesnych poronien samoistnych.
Ginekol Pol;
82(6): 446-50, 2011 Jun.
Artigo
em Polonês
| MEDLINE
| ID: mdl-21853935
15.
Pro12Ala PPAR gamma2 gene polymorphism in women with polycystic ovary syndrome.
Ginekol Pol;
82(6): 426-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21853931
16.
Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.
Front Pediatr;
9: 783553, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34926353
17.
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Genes (Basel);
12(4)2021 04 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33921653
18.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel);
12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34946966
19.
Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Mol Genet Genomic Med;
8(10): e1432, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32705777
20.
Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.
Adv Clin Exp Med;
29(1): 101-106, 2020 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31990460