Whelan DT - Search Results

1

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.

Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G. Hodes ME, et al. Among authors: whelan dt. Clin Genet. 1998 Sep;54(3):248-9. doi: 10.1111/j.1399-0004.1998.tb04295.x. Clin Genet. 1998. PMID: 9788732 No abstract available.

2

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. Among authors: whelan dt. CMAJ. 1999 Jul 27;161(2):165-70. CMAJ. 1999. PMID: 10439827 Free PMC article. Review.

3

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

Nowaczyk MJ, Whelan DT, Hill RE. Nowaczyk MJ, et al. Among authors: whelan dt. 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

4

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

Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Nowaczyk MJ, et al. Among authors: whelan dt. 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

5

Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure.

Nowaczyk MJ, Whelan D, Hill RE, Clarke JT, Pollitt RJ. Nowaczyk MJ, et al. J Inherit Metab Dis. 2000 Mar;23(2):188-9. doi: 10.1023/a:1005630218986. J Inherit Metab Dis. 2000. PMID: 10801061 No abstract available.

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. Among authors: whelan dt. 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. Among authors: whelan dt. 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

Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

Whelan DT, Hill RE, McClorry S. Whelan DT, et al. Clin Chim Acta. 1983 Aug 31;132(3):301-8. doi: 10.1016/0009-8981(83)90008-6. Clin Chim Acta. 1983. PMID: 6616883

9

Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.

Whelan DT, Ryan E, Spate M, Morris M, Hurley RM, Hill R. Whelan DT, et al. Can Med Assoc J. 1979 May 19;120(10):1230-5. Can Med Assoc J. 1979. PMID: 36217 Free PMC article.

10

Mass spectrometry and clinical chemistry.

Hill RE, Whelan DT. Hill RE, et al. Among authors: whelan dt. Clin Chim Acta. 1984 Jun 13;139(3):231-94. doi: 10.1016/0009-8981(84)90274-2. Clin Chim Acta. 1984. PMID: 6378430 Review. No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

36 results

Search Page