Keppen LD - Search Results

1

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

Mello AL, Crotwell PL, Flanagan JD, Woltanski AR, Keppen LD, Van Eerden P, Boyle JG, Stein Q. Mello AL, et al. Among authors: keppen ld. S D Med. 2008 Sep;61(9):327-9, 331. S D Med. 2008. PMID: 18935916

2

Preventing birth defects with folic acid.

Stein Q, Keppen L, Watson WJ. Stein Q, et al. S D J Med. 2002 Sep;55(9):389-91. S D J Med. 2002. PMID: 12360641

3

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.

Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD. Flanagan JD, et al. Among authors: keppen ld. S D Med. 2012 Jun;65(6):221-3, 225. S D Med. 2012. PMID: 22856010

4

Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.

Keppen LD, Gollin SM, Edwards D, Sawyer J, Wilson W, Overhauser J. Keppen LD, et al. Am J Med Genet. 1992 Oct 1;44(3):356-60. doi: 10.1002/ajmg.1320440317. Am J Med Genet. 1992. PMID: 1488985

5

Inborn defects of fatty acid oxidation: a preventable cause of SIDS.

Keppen LD, Randall B. Keppen LD, et al. S D J Med. 1999 Jun;52(6):187-8; disscussion 188-9. S D J Med. 1999. PMID: 10388343

6

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Pedersen CB, et al. Among authors: keppen ld. Pediatr Res. 2006 Sep;60(3):315-20. doi: 10.1203/01.pdr.0000233085.72522.04. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857760

7

FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site.

Johnson VP, Altherr MR, Blake JM, Keppen LD. Johnson VP, et al. Among authors: keppen ld. Am J Med Genet. 1994 Aug 1;52(1):70-4. doi: 10.1002/ajmg.1320520114. Am J Med Genet. 1994. PMID: 7977466

8

Roberts syndrome with normal cell division.

Keppen LD, Gollin SM, Seibert JJ, Sisken JE. Keppen LD, et al. Am J Med Genet. 1991 Jan;38(1):21-4. doi: 10.1002/ajmg.1320380106. Am J Med Genet. 1991. PMID: 2012128

9

Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia.

Keppen LD, Brodsky MC, Michael JM, Poindexter AR. Keppen LD, et al. Am J Med Genet. 1990 Jul;36(3):285-7. doi: 10.1002/ajmg.1320360307. Am J Med Genet. 1990. PMID: 2363423

10

Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children.

Edwards DR, Keppen LD, Ranells JD, Gollin SM. Edwards DR, et al. Among authors: keppen ld. Neurotoxicology. 1988 Fall;9(3):359-65. Neurotoxicology. 1988. PMID: 3200505

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