Perszyk A - Search Results

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Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes.

Michalski K, Rauer M, Williamson N, Perszyk A, Hoo JJ. Michalski K, et al. Among authors: perszyk a. Am J Med Genet. 1993 Apr 1;46(1):88-94. doi: 10.1002/ajmg.1320460115. Am J Med Genet. 1993. PMID: 8494036

3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.

Hoo JJ, Kreiter M, Halverson N, Perszyk A. Hoo JJ, et al. Among authors: perszyk a. Am J Med Genet. 1994 Aug 1;52(1):66-9. doi: 10.1002/ajmg.1320520113. Am J Med Genet. 1994. PMID: 7977465

Perinatal lethal form of Gaucher's disease presenting with hemosiderosis.

Sharma R, Hudak ML, Perszyk AA, Premachandra BR, Li H, Monteiro C. Sharma R, et al. Among authors: perszyk aa. Am J Perinatol. 2000;17(4):201-6. doi: 10.1055/s-2000-9419. Am J Perinatol. 2000. PMID: 11041442

Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder.

Sharma R, Perszyk AA, Marangi D, Monteiro C, Raja S. Sharma R, et al. Among authors: perszyk aa. Am J Perinatol. 2003 Jan;20(1):25-32. doi: 10.1055/s-2003-37952. Am J Perinatol. 2003. PMID: 12638078

Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene.

Goldstein JD, Shanske S, Bruno C, Perszyk AA. Goldstein JD, et al. Among authors: perszyk aa. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):78-85. doi: 10.1007/s100249900094. Pediatr Dev Pathol. 1999. PMID: 9841711 Review.

The value of head circumference measurements after 36 months of age: a clinical report and review of practice patterns.

James HE, Perszyk AA, MacGregor TL, Aldana PR. James HE, et al. Among authors: perszyk aa. J Neurosurg Pediatr. 2015 Aug;16(2):186-94. doi: 10.3171/2014.12.PEDS14251. Epub 2015 May 1. J Neurosurg Pediatr. 2015. PMID: 25932781 Review.

Concepts on childhood microcrania: a clinical overview for the neurosurgeon who is evaluating a child with a small head.

James HE, Perszyk A. James HE, et al. Among authors: perszyk a. Pediatr Neurosurg. 2011;47(5):354-8. doi: 10.1159/000337875. Epub 2012 May 11. Pediatr Neurosurg. 2011. PMID: 22584605

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