Smigiel R - Search Results

1

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Stembalska A, Rydzanicz M, Walas W, Gasperowicz P, Pollak A, Pienkowski VM, Biela M, Klaniewska M, Gamrot Z, Gronska E, Ploski R, Smigiel R. Stembalska A, et al. Among authors: smigiel r. Genes (Basel). 2022 Apr 21;13(5):725. doi: 10.3390/genes13050725. Genes (Basel). 2022. PMID: 35627110 Free PMC article.

2

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).

Krzyzewska IM, Lauffer P, Mul AN, van der Laan L, Yim AYFL, Cobben JM, Niklinski J, Chomczyk MA, Smigiel R, Mannens MMAM, Henneman P. Krzyzewska IM, et al. Among authors: smigiel r. Int J Mol Sci. 2023 Apr 1;24(7):6601. doi: 10.3390/ijms24076601. Int J Mol Sci. 2023. PMID: 37047575 Free PMC article.

3

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

Sasiadek MM, Smigiel R, Stembalska A, Ramsey D, Blin N. Sasiadek MM, et al. Among authors: smigiel r. Anticancer Res. 2006 Nov-Dec;26(6B):4597-601. Anticancer Res. 2006. PMID: 17201183 Free article.

4

[Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report].

Granatowska D, Walas W, Jakuszewska E, Masełko J, Zembala-Nozyńska E, Smigiel R. Granatowska D, et al. Among authors: smigiel r. Med Wieku Rozwoj. 2006 Oct-Dec;10(4):1093-9. Med Wieku Rozwoj. 2006. PMID: 17426375 Polish.

5

[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: smigiel r. Med Wieku Rozwoj. 2012 Apr-Jun;16(2):138-43. Med Wieku Rozwoj. 2012. PMID: 22971658 Review. Polish.

6

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis].

Stembalska A, Smigiel R. Stembalska A, et al. Among authors: smigiel r. Dev Period Med. 2014;18(2):169-75. Dev Period Med. 2014. PMID: 25182255 Polish.

7

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R, Kostrzewa G, Kosinska J, Pollak A, Stawinski P, Szmida E, Bloch M, Szymanska K, Karpinski P, Sasiadek MM, Ploski R. Smigiel R, et al. Am J Med Genet A. 2016 Dec;170(12):3265-3270. doi: 10.1002/ajmg.a.37887. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605359

8

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

Smigiel R, Biela M, Biernacka A, Stembalska A, Sasiadek M, Kosinska J, Rydzanicz M, Ploski R. Smigiel R, et al. Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080. Epub 2017 Oct 19. Clin Genet. 2017. PMID: 29052218 No abstract available.

9

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.

Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Matuszewska KE, et al. Among authors: smigiel r. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. Clin Dysmorphol. 2018. PMID: 29389715 No abstract available.

10

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Smigiel R, et al. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410511 Review.

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