Nowaczyk MJ - Search Results

1

Hirschsprung disease, postaxial polydactyly, and atrial septal defect.

Nowaczyk MJ, James AG, Superina R, Siegel-Bartelt J. Nowaczyk MJ, et al. Am J Med Genet. 1997 Jan 10;68(1):74-5. doi: 10.1002/(sici)1096-8628(19970110)68:1<74::aid-ajmg14>3.0.co;2-l. Am J Med Genet. 1997. PMID: 8986280

2

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ. Feigenbaum A, et al. Among authors: nowaczyk mj. Am J Med Genet. 1996 Apr 24;62(4):404-9. doi: 10.1002/(SICI)1096-8628(19960424)62:4<404::AID-AJMG14>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8723072

3

Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions.

Nowaczyk MJ, Teshima IE, Siegel-Bartelt J, Clarke JT. Nowaczyk MJ, et al. Am J Med Genet. 1997 Apr 14;69(4):400-5. Am J Med Genet. 1997. PMID: 9098490

4

Central nervous system malformations in ethylmalonic encephalopathy.

Nowaczyk MJ, Blaser SI, Clarke JT. Nowaczyk MJ, et al. Am J Med Genet. 1998 Jan 23;75(3):292-6. Am J Med Genet. 1998. PMID: 9475600

5

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.

Nowaczyk MJ, Ramsay JA, Mohide P, Tomkins DJ. Nowaczyk MJ, et al. Am J Med Genet. 1998 May 26;77(4):306-9. Am J Med Genet. 1998. PMID: 9600741

6

Schimke immunoosseous dysplasia complicated by moyamoya phenomenon.

Boerkoel CF, Nowaczyk MJ, Blaser SI, Meschino WS, Weksberg R. Boerkoel CF, et al. Among authors: nowaczyk mj. Am J Med Genet. 1998 Jun 30;78(2):118-22. doi: 10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9674900

7

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

8

Ring chromosome 22 and autism: report and review.

MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ. MacLean JE, et al. Among authors: nowaczyk mj. Am J Med Genet. 2000 Feb 28;90(5):382-5. Am J Med Genet. 2000. PMID: 10706359

9

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: nowaczyk mj. Am J Med Genet. 2002 Feb 15;108(1):64-8. doi: 10.1002/ajmg.10211. Am J Med Genet. 2002. PMID: 11857552

10

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: nowaczyk mj. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.

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