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
Inglês
| MEDLINE | ID: mdl-32772980
2.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30677142
3.
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20.
Fetal Pediatr Pathol
; 38(3): 245-256, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30893560
4.
Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.
BMC Cancer
; 18(1): 452, 2018 04 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29678143
5.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27648933
6.
Fragile X syndrome in females - a familial case report and review of the literature.
Dev Period Med
; 20(2): 99-104, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27442693
7.
Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency.
Birth Defects Res A Clin Mol Teratol
; 103(4): 255-9, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25852029
8.
[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
Polonês
| MEDLINE | ID: mdl-26665572
9.
[Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis]. / Nieinwazyjny test NIFTY w diagnostyce najczestszych trisomii chromosomowych u plodu.
Ginekol Pol
; 85(4): 300-3, 2014 Apr.
Artigo
Polonês
| MEDLINE | ID: mdl-24834709
10.
[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis].
Dev Period Med
; 18(2): 169-75, 2014.
Artigo
Polonês
| MEDLINE | ID: mdl-25182255
11.
[New molecular methods in prenatal invasive diagnostics]. / Nowoczesne metody molekularne w prenatalnej diagnostyce inwazyjnej.
Ginekol Pol
; 84(10): 871-6, 2013 Oct.
Artigo
Polonês
| MEDLINE | ID: mdl-24273910
12.
The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer.
Mol Biol Rep
; 39(1): 527-34, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21559836
13.
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.
Genes (Basel)
; 13(8)2022 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35893076
14.
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Genes (Basel)
; 13(5)2022 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35627110
15.
[Non-invasive prenatal test in the diagnosis of aneuploidy 13, 18 and 21--theoretical and practical aspects]. / Nieinwazyjne badania prenatalne w diagnostyce aneuploidii chromosmów 13, 18 i 21--aspekty teoretyczne i praktyczne.
Ginekol Pol
; 82(2): 126-32, 2011 Feb.
Artigo
Polonês
| MEDLINE | ID: mdl-21574485
16.
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Adv Clin Exp Med
; 30(6): 641-647, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34019743
17.
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.
Front Neurol
; 12: 758899, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35058872
18.
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.
Genes (Basel)
; 12(7)2021 07 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34356094
19.
Perinatalna opieka paliatywna realizowana w oddziale polozniczym i neonatologicznym we wspólpracy z hospicjum dla dzieci - doswiadczenia wlasne.
J Mother Child
; 23(4): 253-262, 2021 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34705354
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
Inglês
| MEDLINE | ID: mdl-31990460