Prasad C - Search Results

1

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

Prasad C, Marles S, Prasad AN, Nikkel S, Longstaffe S, Peabody D, Eng B, Wright S, Waye JS, Nowaczyk MJ. Prasad C, et al. Among authors: prasad an. Am J Med Genet. 2002 Feb 15;108(1):64-8. doi: 10.1002/ajmg.10211. Am J Med Genet. 2002. PMID: 11857552

2

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE. Prasad C, et al. Among authors: prasad an. Clin Genet. 2000 Feb;57(2):103-9. doi: 10.1034/j.1399-0004.2000.570203.x. Clin Genet. 2000. PMID: 10735630

3

The floppy infant: contribution of genetic and metabolic disorders.

Prasad AN, Prasad C. Prasad AN, et al. Among authors: prasad c. Brain Dev. 2003 Oct;25(7):457-76. doi: 10.1016/s0387-7604(03)00066-4. Brain Dev. 2003. PMID: 13129589 Review.

4

Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.

Greenberg CR, Prasad AN, Dilling LA, Thompson JR, Haworth JC, Martin B, Wood-Steiman P, Seargeant LE, Seifert B, Booth FA, Prasad C. Greenberg CR, et al. Among authors: prasad an, prasad c. Mol Genet Metab. 2002 Jan;75(1):70-8. doi: 10.1006/mgme.2001.3270. Mol Genet Metab. 2002. PMID: 11825066

5

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Among authors: prasad an, prasad c. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

6

The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

Keilland E, Rupar CA, Prasad AN, Tay KY, Downie A, Prasad C. Keilland E, et al. Among authors: prasad an, prasad c. Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014580 Free PMC article.

7

The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility.

Birdi K, Prasad AN, Prasad C, Chodirker B, Chudley AE. Birdi K, et al. Among authors: prasad an, prasad c. J Child Neurol. 2005 Oct;20(10):803-8. doi: 10.1177/08830738050200100401. J Child Neurol. 2005. PMID: 16417874

8

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Prasad AN, Rupar CA, Prasad C. Prasad AN, et al. Among authors: prasad c. Brain Dev. 2011 Oct;33(9):758-69. doi: 10.1016/j.braindev.2011.05.014. Epub 2011 Jul 22. Brain Dev. 2011. PMID: 21778025 Review.

9

Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.

Vaz SS, Chodirker B, Prasad C, Seabrook JA, Chudley AE, Prasad AN. Vaz SS, et al. Among authors: prasad an, prasad c. Am J Med Genet A. 2012 Apr;158A(4):751-8. doi: 10.1002/ajmg.a.35240. Epub 2012 Mar 14. Am J Med Genet A. 2012. PMID: 22419615

10

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Prasad C, et al. Among authors: prasad an. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31. Mol Genet Metab. 2013. PMID: 23375728

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