Boyadjiev SA - Search Results

1

The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia.

Al-Hassnan ZN, Boyadjiev SA, Praphanphoj V, Hamosh A, Braverman NE, Thomas GH, Geraghty MT. Al-Hassnan ZN, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2003;26(1):89-91. doi: 10.1023/a:1024048118294. J Inherit Metab Dis. 2003. PMID: 12872849

2

Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia.

Praphanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT. Praphanphoj V, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2000 Mar;23(2):129-36. doi: 10.1023/a:1005661631281. J Inherit Metab Dis. 2000. PMID: 10801054

3

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Cohn RD, et al. Among authors: boyadjiev sa. Pediatrics. 2006 Aug;118(2):e514-21. doi: 10.1542/peds.2005-1307. Epub 2006 Jun 30. Pediatrics. 2006. PMID: 16816004

4

Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Flanagan N, et al. Among authors: boyadjiev sa. J Med Genet. 1998 Sep;35(9):763-6. doi: 10.1136/jmg.35.9.763. J Med Genet. 1998. PMID: 9733036 Free PMC article.

5

A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.

Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. Boyadjiev SA, et al. Genomics. 2005 May;85(5):622-9. doi: 10.1016/j.ygeno.2005.01.002. Genomics. 2005. PMID: 15820314

6

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.

Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. Schiffmann R, et al. Among authors: boyadjiev sa. J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834538 Clinical Trial.

7

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Glaser RL, et al. Among authors: boyadjiev sa. Am J Hum Genet. 2000 Mar;66(3):768-77. doi: 10.1086/302831. Am J Hum Genet. 2000. PMID: 10712195 Free PMC article.

8

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

Boyadjiev SA, Jabs EW. Boyadjiev SA, et al. Clin Genet. 2000 Apr;57(4):253-66. doi: 10.1034/j.1399-0004.2000.570403.x. Clin Genet. 2000. PMID: 10845565 Review.

9

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Among authors: boyadjiev sa. Clin Genet. 2005 Jun;67(6):503-10. doi: 10.1111/j.1399-0004.2005.00438.x. Clin Genet. 2005. PMID: 15857417

10

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. Chassaing N, et al. Among authors: boyadjiev sa. J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10. J Med Genet. 2012. PMID: 22577225

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