Nowaczyk MJ - Search Results

1

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Nowaczyk MJ, et al. Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21. Am J Med Genet A. 2012. PMID: 22438180

2

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

Nowaczyk MJ, Whelan DT, Hill RE. Nowaczyk MJ, et al. Am J Med Genet. 1998 Aug 6;78(5):419-23. doi: 10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9714007

3

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Nowaczyk MJ, Whelan DT, Heshka TW, Hill RE. Nowaczyk MJ, et al. CMAJ. 1999 Jul 27;161(2):165-70. CMAJ. 1999. PMID: 10439827 Free PMC article. Review.

4

Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome.

Nowaczyk MJ, Sutcliffe TL. Nowaczyk MJ, et al. Am J Med Genet. 1999 Nov 5;87(1):78-81. doi: 10.1002/(sici)1096-8628(19991105)87:1<78::aid-ajmg16>3.0.co;2-n. Am J Med Genet. 1999. PMID: 10528253

5

Anesthetic considerations in Smith-Lemli-Opitz syndrome.

Choi PT, Nowaczyk MJ. Choi PT, et al. Among authors: nowaczyk mj. Can J Anaesth. 2000 Jun;47(6):556-61. doi: 10.1007/BF03018947. Can J Anaesth. 2000. PMID: 10875719

6

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD. Krakowiak PA, et al. Among authors: nowaczyk mj. Am J Med Genet. 2000 Sep 18;94(3):214-27. Am J Med Genet. 2000. PMID: 10995508

7

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE. Nowaczyk MJ, et al. Am J Med Genet. 2000 Dec 11;95(4):396-8. Am J Med Genet. 2000. PMID: 11186897

8

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS. Nowaczyk MJ, et al. Am J Med Genet. 2001 Apr 22;100(2):162-3. doi: 10.1002/ajmg.1227. Am J Med Genet. 2001. PMID: 11298379

9

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Nowaczyk MJ, Waye JS. Nowaczyk MJ, et al. Clin Genet. 2001 Jun;59(6):375-86. doi: 10.1034/j.1399-0004.2001.590601.x. Clin Genet. 2001. PMID: 11453964 Review.

10

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Nowaczyk MJ, et al. Am J Med Genet. 2001 Jul 22;102(1):18-20. doi: 10.1002/1096-8628(20010722)102:1<18::aid-ajmg1376>3.0.co;2-e. Am J Med Genet. 2001. PMID: 11471166

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