Schrier SA - Search Results

1

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. Schrier SA, et al. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711679 Free PMC article.

2

Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Chatfield KC, Schrier SA, Li J, Clark D, Kaur M, Kline AD, Deardorff MA, Jackson LS, Goldmuntz E, Krantz ID. Chatfield KC, et al. Among authors: schrier sa. Am J Med Genet A. 2012 Oct;158A(10):2499-505. doi: 10.1002/ajmg.a.35582. Epub 2012 Sep 10. Am J Med Genet A. 2012. PMID: 22965847 Free PMC article.

3

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature.

Schrier SA, Sherer I, Deardorff MA, Clark D, Audette L, Gillis L, Kline AD, Ernst L, Loomes K, Krantz ID, Jackson LG. Schrier SA, et al. Am J Med Genet A. 2011 Dec;155A(12):3007-24. doi: 10.1002/ajmg.a.34329. Epub 2011 Nov 8. Am J Med Genet A. 2011. PMID: 22069164 Free PMC article. Review.

4

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Schrier SA, Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ. Schrier SA, et al. Discov Med. 2012 Feb;13(69):143-50. Discov Med. 2012. PMID: 22369973 Free PMC article.

5

Mitochondrial disorders and the eye.

Schrier SA, Falk MJ. Schrier SA, et al. Curr Opin Ophthalmol. 2011 Sep;22(5):325-31. doi: 10.1097/ICU.0b013e328349419d. Curr Opin Ophthalmol. 2011. PMID: 21730846 Free PMC article. Review.

6

Severe metabolic acidosis in a newborn with an abnormal newborn screen.

Schrier SA, Ficicioglu C. Schrier SA, et al. Clin Pediatr (Phila). 2012 May;51(5):518-20. doi: 10.1177/0009922811429483. Clin Pediatr (Phila). 2012. PMID: 22500046 No abstract available.

7

Unexpected hearing loss in high-risk infants.

Nield TA, Schrier S, Ramos AD, Platzker AC, Warburton D. Nield TA, et al. Pediatrics. 1986 Sep;78(3):417-22. Pediatrics. 1986. PMID: 2427999

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