L. Keppen

发表

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

J. Lupski, I. Butler, P. Mancias, 1998, Nature Genetics.

Etiological heterogeneity in X-linked spastic paraplegia.

Y. Nakamura, M. Leppert, P. O'Connell, 1987, American journal of human genetics.

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

J. Lupski, K. Szigeti, D. Sherman, 2007, Neurogenetics.

Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

K. Ormond, R. Hennekam, M. Bull, 2005, American journal of medical genetics. Part A.

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.

V. P. Johnson, L. Keppen, M. S. Carpenter, 1997, American journal of medical genetics.

Prenatal diagnosis of a trisomy 17p derived from a de novo non‐mosaic satellited marker

D. Flannery, A. Kulharya, L. Keppen, 1998, Clinical genetics.

Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.

M. Brodsky, L. Keppen, C. D. Rice, 1990, American journal of ophthalmology.

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

D. Barker, P. Fain, F. Cambi, 1996, Neurology.

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

V. P. Johnson, M. Altherr, L. Keppen, 1994, American journal of medical genetics.

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

S. Gollin, J. Sawyer, J. Overhauser, 1992, American journal of medical genetics.

Confirmation of autosomal dominant transmission of the DiGeorge malformation complex.

A. Burks, S. Gollin, J. Sawyer, 1988, The Journal of pediatrics.

Nutritional Management of a Critically Ill Infant With Maple Syrup Urine Disease

P. A. Wiggins, L. Keppen, 1986 .

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

M. Brodsky, L. Keppen, A. Poindexter, 1990, American journal of medical genetics.

Roberts syndrome with normal cell division.

S. Gollin, J. Seibert, J. Sisken, 1991, American journal of medical genetics.

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

V. P. Johnson, M. Bull, G. Tint, 1997, American journal of medical genetics.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

J. Charrow, Ayesha Ahmad, J. Vockley, 2007, Genetics in Medicine.

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

R. Wanders, B. Andresen, N. Gregersen, 2006, Pediatric Research.

Silver‐Russell syndrome with absence of digits and syndactylism of the fingers

O. Rennert, L. Keppen, 1983, Clinical genetics.

Anophthalmia in Delleman syndrome.

M. Brodsky, C. Glasier, R. Harper, 1990, American journal of medical genetics.

X‐linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female

L. Keppen, R. Woody, M. Husain, 1987, Clinical genetics.

Zinc Deficiency Acts as a Co-Teratogen with Alcohol in Fetal Alcohol Syndrome

T. Pysher, O. Rennert, L. Keppen, 1985, Pediatric Research.

Zinc nutrition in fetal alcohol syndrome.

D. Moore, L. Keppen, D. J. Cannon, 1990, Neurotoxicology.