Detalhe da pesquisa
1.
Prenatal diagnosis of craniosynostosis (compound Saethre-Chotzen syndrome phenotype) caused by a de novo complex chromosomal rearrangement (1; 4; 7) with a microdeletion of 7p21.3-7p15.3, including TWIST1 gene--a case report.
Ginekol Pol
; 85(7): 541-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118508
2.
[Aberrant right subclavian artery (ARSA)--a new sonographic marker for chromosomal aberrations in the second trimester--preliminary observations]. / Bladzaca prawa tetnica podobojczykowa--nowy marker aberracji chromosomowych w badaniu USG drugiego trymestru--wstepne obserwacje na materiale wlasnym.
Ginekol Pol
; 85(10): 742-7, 2014 Oct.
Artigo
em Polonês
| MEDLINE | ID: mdl-25546924
3.
[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies]. / Analiza efektywnosci techniki MLPA w inwazyjnej diagnostyce prenatalnej najczestszych aneuploidii.
Ginekol Pol
; 84(8): 682-90, 2013 Aug.
Artigo
em Polonês
| MEDLINE | ID: mdl-24191501
4.
Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features.
Am J Med Genet A
; 158A(6): 1442-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581569
5.
[A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease]. / Badania nad wystepowaniem delecji 22q11.2 u osób z choroba psychiczna.
Psychiatr Pol
; 41(2): 251-60, 2007.
Artigo
em Polonês
| MEDLINE | ID: mdl-17598434