Sklirou E[Author] - Search Results

Year	Number of Results
2007	1
2009	1
2010	1
2011	1
2012	2
2018	1
2020	2
2021	2
2024	0

1

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.

Sklirou E, Lichter-Konecki U. Sklirou E, et al. Pediatr Clin North Am. 2018 Apr;65(2):267-277. doi: 10.1016/j.pcl.2017.11.009. Pediatr Clin North Am. 2018. PMID: 29502913 Review.

2

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: sklirou e. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.

3

A word on chills.

Kopterides P, Sklirou E. Kopterides P, et al. Among authors: sklirou e. Am J Med. 2007 Feb;120(2):e21; author reply e23. doi: 10.1016/j.amjmed.2006.01.027. Am J Med. 2007. PMID: 17275439 No abstract available.

4

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders.

Sklirou E, Alodaib AN, Dobrowolski SF, Mohsen AA, Vockley J. Sklirou E, et al. Front Genet. 2021 Jan 15;11:598760. doi: 10.3389/fgene.2020.598760. eCollection 2020. Front Genet. 2021. PMID: 33584796 Free PMC article.

5

Prognostic significance of Dicer cellular levels in soft tissue sarcomas.

Papachristou DJ, Rao UN, Korpetinou A, Giannopoulou E, Sklirou E, Kontogeorgakos V, Kalofonos HP. Papachristou DJ, et al. Among authors: sklirou e. Cancer Invest. 2012 Feb;30(2):172-9. doi: 10.3109/07357907.2011.633293. Epub 2011 Dec 13. Cancer Invest. 2012. PMID: 22149178

6

Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y. Kandler JL, et al. Among authors: sklirou e. Mol Genet Genomic Med. 2020 Nov;8(11):e1516. doi: 10.1002/mgg3.1516. Epub 2020 Oct 8. Mol Genet Genomic Med. 2020. PMID: 33031641 Free PMC article.

7

Immunohistochemical analysis of the endoribonucleases Drosha, Dicer and Ago2 in smooth muscle tumours of soft tissues.

Papachristou DJ, Sklirou E, Corradi D, Grassani C, Kontogeorgakos V, Rao UN. Papachristou DJ, et al. Among authors: sklirou e. Histopathology. 2012 May;60(6B):E28-36. doi: 10.1111/j.1365-2559.2012.04192.x. Epub 2012 Mar 6. Histopathology. 2012. PMID: 22394132

8

A girl with bilateral temporomandibular joint pain, generalized arthralgias, and inability to walk.

Sklirou E, Mavrikou M, Voudris KA, Stamoyannou L. Sklirou E, et al. Clin Pediatr (Phila). 2010 Apr;49(4):400-3. doi: 10.1177/0009922809337623. Epub 2009 Jun 1. Clin Pediatr (Phila). 2010. PMID: 19487766

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