Nowaczyk MJ - Search Results

1

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. De Rocker N, et al. Among authors: nowaczyk mj. Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232846 Free article.

2

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

3

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

4

De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion.

Sathya P, Tomkins DJ, Freeman V, Paes B, Nowaczyk MJ. Sathya P, et al. Among authors: nowaczyk mj. Am J Med Genet. 1999 May 21;84(2):116-9. doi: 10.1002/(sici)1096-8628(19990521)84:2<116::aid-ajmg6>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10323735

5

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

6

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Dec 1;123A(2):179-82. doi: 10.1002/ajmg.a.20215. Am J Med Genet A. 2003. PMID: 14598343

7

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature.

Nowaczyk MJ, Zeesman S, Kam A, Taylor SA, Carter RF, Whelan DT. Nowaczyk MJ, et al. Am J Med Genet A. 2004 Feb 15;125A(1):73-6. doi: 10.1002/ajmg.a.20458. Am J Med Genet A. 2004. PMID: 14755470 Review.

8

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.

Nowaczyk MJ, Zeesman S, Waye JS, Douketis JD. Nowaczyk MJ, et al. J Pediatr. 2004 Oct;145(4):530-5. doi: 10.1016/j.jpeds.2004.06.045. J Pediatr. 2004. PMID: 15480380

9

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

Zeesman S, Nowaczyk MJ, Teshima I, Roberts W, Cardy JO, Brian J, Senman L, Feuk L, Osborne LR, Scherer SW. Zeesman S, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2006 Mar 1;140(5):509-14. doi: 10.1002/ajmg.a.31110. Am J Med Genet A. 2006. PMID: 16470794

10

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Feuk L, et al. Among authors: nowaczyk mj. Am J Hum Genet. 2006 Nov;79(5):965-72. doi: 10.1086/508902. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033973 Free PMC article.

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