Kahler SG - Search Results

1

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG. Kishnani P, et al. Among authors: kahler sg. Am J Med Genet. 1995 Oct 23;59(1):44-8. doi: 10.1002/ajmg.1320590110. Am J Med Genet. 1995. PMID: 8849010

2

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG. Van Hove JL, et al. Among authors: kahler sg. Am J Med Genet. 1992 Sep 1;44(1):24-30. doi: 10.1002/ajmg.1320440107. Am J Med Genet. 1992. PMID: 1519645

3

Fryns syndrome survivors and neurologic outcome.

Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Van Hove JL, et al. Among authors: kahler sg. Am J Med Genet. 1995 Nov 20;59(3):334-40. doi: 10.1002/ajmg.1320590311. Am J Med Genet. 1995. PMID: 8599357 Review.

4

Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I.

Iafolla AK, Kahler SG. Iafolla AK, et al. Among authors: kahler sg. J Pediatr. 1989 Jun;114(6):1004-6. doi: 10.1016/s0022-3476(89)80450-0. J Pediatr. 1989. PMID: 2627209 No abstract available.

5

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Van Hove JL, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS. Van Hove JL, et al. Among authors: kahler sg. Am J Hum Genet. 1993 May;52(5):958-66. Am J Hum Genet. 1993. PMID: 8488845 Free PMC article.

6

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Among authors: kahler sg. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564

7

A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

Helali N, Iafolla AK, Kahler SG, Qumsiyeh MB. Helali N, et al. Among authors: kahler sg. J Med Genet. 1996 Jul;33(7):600-2. doi: 10.1136/jmg.33.7.600. J Med Genet. 1996. PMID: 8818949 Free PMC article.

8

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL. Ahmad A, et al. Among authors: kahler sg. Am J Med Genet. 1999 Dec 3;87(4):331-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10588840

9

Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.

Van Hove JL, Chace DH, Kahler SG, Millington DS. Van Hove JL, et al. Among authors: kahler sg. J Inherit Metab Dis. 1993;16(2):361-7. doi: 10.1007/BF00710283. J Inherit Metab Dis. 1993. PMID: 8411998

10

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.

Kishnani PS, Van Hove JL, Shoffner JS, Kaufman A, Bossen EH, Kahler SG. Kishnani PS, et al. Among authors: kahler sg. Eur J Pediatr. 1996 Oct;155(10):898-903. doi: 10.1007/BF02282842. Eur J Pediatr. 1996. PMID: 8891562

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

89 results

Search Page

Filters