Detalhe da pesquisa
1.
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Medicina (Kaunas)
; 58(11)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36363484
2.
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Am J Med Genet A
; 182(3): 536-542, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833209
3.
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
Clin Chem
; 62(6): 848-55, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117469
4.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Am J Med Genet A
; 167(6): 1342-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900314
5.
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Am J Med Genet A
; 170(3): 781-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26602066
6.
Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement.
Taiwan J Obstet Gynecol
; 55(3): 410-4, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27343325
7.
COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.
J Appl Genet
; 44(1): 95-102, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12590186