Detalhe da pesquisa
1.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267967
2.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352868
3.
[The genetics of obesity - pathogenetic, clinical and diagnostic aspects].
Dev Period Med
; 21(3): 186-202, 2017.
Artigo
em Polonês
| MEDLINE | ID: mdl-29077558
4.
A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.
Dev Period Med
; 21(2): 91-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796977
5.
Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies.
Adv Exp Med Biol
; 912: 1-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26987320
6.
The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Dev Period Med
; 18(3): 307-17, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182394
7.
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Genes (Basel)
; 13(4)2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456496
8.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
J Appl Genet
; 62(3): 477-485, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982229
9.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Genes (Basel)
; 12(12)2021 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946970
10.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Genes (Basel)
; 12(8)2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440431
11.
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
12.
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Eur J Hum Genet
; 26(8): 1121-1131, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706646
13.
High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate.
Neonatology
; 107(3): 173-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25613075
14.
Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancer.
Breast Cancer Res Treat
; 95(2): 141-5, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16267612
15.
CDKN2A common variant and multi-organ cancer risk--a population-based study.
Int J Cancer
; 118(12): 3180-2, 2006 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16395703
16.
Low-risk Genes and Multi-organ Cancer Risk in the Polish Population.
Hered Cancer Clin Pract
; 4(1): 52-5, 2006 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20223005