Detalhe da pesquisa
1.
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Birth Defects Res A Clin Mol Teratol
; 106(4): 304-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26879631
2.
[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
3.
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
Birth Defects Res A Clin Mol Teratol
; 100(4): 314-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706454
4.
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
5.
Complex glycerol kinase deficiency - long-term follow-up of two patients.
Pediatr Endocrinol Diabetes Metab
; 27(3): 227-231, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743506
6.
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Mol Genet Genomic Med
; 9(9): e1772, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342181
7.
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
8.
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
Am J Med Genet A
; 152A(2): 447-52, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101687
9.
Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports.
Pol J Radiol
; 75(2): 94-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22802783
10.
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
11.
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.
J Appl Genet
; 56(2): 199-204, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25387991
12.
Exonic deletions in the NF1 gene in patients with neurofibromatosis type I from the lower Silesian region of Poland.
Adv Clin Exp Med
; 23(4): 517-21, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25166435
13.
[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]. / Trudnosci diagnostyczne w zespole Smitha i Magenisa (SMS) na podstawie wlasnych doswiadcen i danych z literatury.
Med Wieku Rozwoj
; 16(2): 138-43, 2012.
Artigo
em Polonês
| MEDLINE | ID: mdl-22971658
14.
Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion).
Pediatr Endocrinol Diabetes Metab
; 18(4): 153-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23739620
15.
[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology]. / Badania przesiewowe technika Multiplex Ligation-dependent Probe Amplification(MLPA) u dzieci z zaburzeniem rozwoju i niepelnosprawnoscia intelektualna o nieokreslonej etiologii.
Med Wieku Rozwoj
; 15(2): 132-9, 2011.
Artigo
em Polonês
| MEDLINE | ID: mdl-22002044