The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.
Małgorzata J. M. Nowaczyk
Department of Pathology and Molecular Medicine
Hamilton Health Sciences Corporation and McMaster University
Canada
Name/email consistency: high
- Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology. Nowaczyk, M.J., Irons, M.B. Am. J. Med. Genet. C. Semin. Med. Genet (2012)
- Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction. Nowaczyk, M.J., Cunniff, C. Am. J. Med. Genet. C. Semin. Med. Genet (2012)
- Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. Nowaczyk, M.J., Tan, M., Hamid, J.S., Allanson, J.E. Am. J. Med. Genet. A (2012)
- Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome). Nowaczyk, M.J. Am. J. Med. Genet. A (2011)
- DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?. Nowaczyk, M.J., Waye, J.S., Douketis, J.D. Am. J. Med. Genet. A (2006)
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature. Nowaczyk, M.J., Zeesman, S., Kam, A., Taylor, S.A., Carter, R.F., Whelan, D.T. Am. J. Med. Genet. A (2004)
- Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Martin-Garcia, D., Aquino-Perna, A., Rodriguez-Vazquez, M., McCaughey, D., Eng, B., Nakamura, L.M., Waye, J.S. Am. J. Med. Genet. A (2004)
- Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance. Nowaczyk, M.J., Zeesman, S., Waye, J.S., Douketis, J.D. J. Pediatr. (2004)
- De novo 1q32q44 duplication and distal 1q trisomy syndrome. Nowaczyk, M.J., Bayani, J., Freeman, V., Watts, J., Squire, J., Xu, J. Am. J. Med. Genet. A (2003)
- Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Nowaczyk, M.J., Zeesman, S., Whelan, D.T., Wright, V., Feather, S.A. Am. J. Med. Genet. A (2003)
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Heshka, T., Eng, B., Feigenbaum, A.J., Waye, J.S. Am. J. Med. Genet. (2001)
- The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Nowaczyk, M.J., Waye, J.S. Clin. Genet. (2001)
- Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. Nowaczyk, M.J., McCaughey, D., Whelan, D.T., Porter, F.D. Am. J. Med. Genet. (2001)
- Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Nakamura, L.M., Eng, B., Porter, F.D., Waye, J.S. Am. J. Med. Genet. (2001)
- Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. Nowaczyk, M.J., Farrell, S.A., Sirkin, W.L., Velsher, L., Krakowiak, P.A., Waye, J.S., Porter, F.D. Am. J. Med. Genet. (2001)
- Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Siu, V.M., Krakowiak, P.A., Porter, F.D. Am. J. Med. Genet. (2001)
- DHCR7 and Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Nakamura, L.M., Waye, J.S. Clin. Invest. Med (2001)
- Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.. Nowaczyk, M.J., Huggins, M.J., Tomkins, D.J., Rossi, E., Ramsay, J.A., Woulfe, J., Scherer, S.W., Belloni, E. Clin. Genet. (2000)
- Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. Nowaczyk, M.J., Heshka, T., Kratz, L.E., Kelley, R.E. Am. J. Med. Genet. (2000)
