Jakubiak A - Search Results

1

Application of the 64-slice computed tomography as a diagnostic method in acute posttraumatic ischaemia of the upper limbs - 3 case reports.

Waliszewska M, Jakubiak A, Guziński M, Sąsiadek M. Waliszewska M, et al. Among authors: jakubiak a. Pol J Radiol. 2010 Apr;75(2):94-7. Pol J Radiol. 2010. PMID: 22802783 Free PMC article.

2

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.

Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Smigiel R, et al. Among authors: jakubiak a. Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):304-7. doi: 10.1002/bdra.23488. Epub 2016 Feb 16. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26879631

3

Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

Smigiel R, Lebioda A, Blaszczyński M, Korecka K, Czauderna P, Korlacki W, Jakubiak A, Bednarczyk D, Maciejewski H, Wizinska P, Sasiadek MM, Patkowski D. Smigiel R, et al. Among authors: jakubiak a. Dis Esophagus. 2015 Apr;28(3):229-33. doi: 10.1111/dote.12173. Epub 2014 Jan 27. Dis Esophagus. 2015. PMID: 24460849

4

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Smigiel R, Bezniakow N, Jakubiak A, Błoch M, Patkowski D, Obersztyn E, Sasiadek MM. Smigiel R, et al. Among authors: jakubiak a. J Appl Genet. 2015 May;56(2):199-204. doi: 10.1007/s13353-014-0255-4. Epub 2014 Nov 12. J Appl Genet. 2015. PMID: 25387991

5

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Łaczmańska I, Stembalska A, Złocińska M, Kozłowska J, Skiba P, Pesz K, Ślęzak R, Śmigiel R, Jakubiak A, Misiak B, Sąsiadek MM. Łaczmańska I, et al. Among authors: jakubiak a. Adv Clin Exp Med. 2020 Jan;29(1):101-106. doi: 10.17219/acem/112609. Adv Clin Exp Med. 2020. PMID: 31990460 Free article.

6

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Smigiel R, et al. Among authors: jakubiak a. Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484999 Review.

7

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Stembalska A, Jakubiak A, Śmigiel R. Stembalska A, et al. Among authors: jakubiak a. Med Wieku Rozwoj. 2012 Apr-Jun;16(2):138-43. Med Wieku Rozwoj. 2012. PMID: 22971658 Review. Polish.

8

[Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].

Laczmańska I, Jakubiak A, Slęzak R, Pesz K, Stembalska A, Laczmański L, Sąsiadek MM, Smigiel R. Laczmańska I, et al. Among authors: jakubiak a. Med Wieku Rozwoj. 2011 Apr-Jun;15(2):132-9. Med Wieku Rozwoj. 2011. PMID: 22002044 Polish.

9

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S. Jamsheer A, et al. Among authors: jakubiak a. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. doi: 10.1002/bdra.23239. Epub 2014 Apr 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24706454 Clinical Trial.

10

Complex glycerol kinase deficiency - long-term follow-up of two patients.

Wikiera B, Jakubiak A, Łaczmanska I, Noczyńska A, Śmigiel R. Wikiera B, et al. Among authors: jakubiak a. Pediatr Endocrinol Diabetes Metab. 2021;27(3):227-231. doi: 10.5114/pedm.2021.109681. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743506 Free PMC article.

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