OA1 Mutations and Deletions in X-Linked Ocular Albinism
Schnur, Rhonda E., Gao, Mei, Wick, Penelope A., Keller, Margaret, Benke, Paul J., Edwards, Matthew J., Grix, Arthur W., Hockey, Athel, Jung, Jack H., Kidd, Kenneth K., Kistenmacher, Mildred, Levin, Alex V., Lewis, Richard A., Musarella, Maria A., Nowakowski, Rod W., Orlow, Seth J., Pagon, Roberta S., Pillers, De-Ann M., Punnett, Hope H., Quinn, Graham E., Tezcan, Kamer, Wagstaff, Joseph, Weleber, Richard G.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Journal Article
Limitations of metachromasia as a diagnostic aid in pediatrics
Taysi, K, Kistenmacher, M L, Punnett, H H, Mellman, W J
Published in The New England journal of medicine (13.11.1969)
Published in The New England journal of medicine (13.11.1969)
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Journal Article
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy
Cohen, S M, Brown, 3rd, F R, Martyn, L, Moser, H W, Chen, W, Kistenmacher, M, Punnett, H, de la Cruz, Z C, Chan, N R, Green, W R
Published in American journal of ophthalmology (01.10.1983)
Published in American journal of ophthalmology (01.10.1983)
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Journal Article
914 ASSOCIATION OF CHROMOSOME ABNORMALITIES WITH FETAL DILANTIN SYNDROME
Greenberg, Frank, Punnett, Hope H, Kistenmacher, Mildred L, Digeorge, Angelo M
Published in Pediatric research (01.04.1978)
Published in Pediatric research (01.04.1978)
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Journal Article
Ocular Pathology in a Case of 13 Trisomy
Rodrigues, Merlyn M, Valdes-Dapena, Marie, Kistenmacher, Mildred
Published in Journal of pediatric ophthalmology and strabismus (01.02.1973)
Published in Journal of pediatric ophthalmology and strabismus (01.02.1973)
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Journal Article
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia
Punnett, Hope H., Kistenmacher, Mildred L., Valdes-Dapena, Marie, Ellison, Richard T.
Published in The Journal of pediatrics (01.09.1974)
Published in The Journal of pediatrics (01.09.1974)
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Journal Article