Paige Kaplan | Researchain

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American Journal of Medical Genetics | 1996

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

Rosemarie Rupps; Alison M. Elliott; E. Michel Azouz; Mark Bernstein; Paige Kaplan; Patrice Eydoux; Vazken M. Der Kaloustian

We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive hearing loss, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion). Some of these manifestations may be present in the Keutel syndrome, IVIC syndrome, and the 10qter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.

American Journal of Medical Genetics | 1988

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family

Bernard S. Kaplan; Paige Kaplan; Jean-Pierre de Chadarévian; Sigrid Jequier; Sean O'Regan; Pierre Russo; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1987

Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity

Kirk A. Aleck; Art Grix; Carol L. Clericuzio; Paige Kaplan; Gerald E. Adomian; Ralph S. Lachman; David L. Rimoin; Judith G. Hall

Annals of Neurology | 1988

Leukoencephalopathy among native indian infants in northern Quebec and Manitoba

Deborah N. Black; Fran Booth; Gordon V. Watters; Eva Andermann; Charles Dumont; William C. Halliday; J. Hoogstraten; Michel E. Kabay; Paige Kaplan; Kathleen Meagher-Villemure; Jean Michaud; Gus O'gorman

American Journal of Medical Genetics | 1986