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Nürnberg, Peter, Dallapiccola, Bruno, Tassabehji, May, Müller, Dietmar, Rajab, Anna, Kornak, Uwe, Budde, Birgit, Zampino, Giuseppe, Nätebus, Marc, Seifert, Wenke, Kaplan, Paige B, Egerer, Johannes, Newman, William, Barr, Francis A, Zhang, Xin, Fodale, Valentina, Hennies, Hans Christian, Mundlos, Stefan, Clayton-Smith, Jill, Wilcox, William R, Metcalfe, Kay, Brancati, Francesco, Kühnisch, Jirko, Zhang, Haikuo, Steinmann, Beat, Wieacker, Peter
Published in Nature genetics (01.12.2008)
Published in Nature genetics (01.12.2008)
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Relation of Ventricular Ectopic Complexes to QTc Interval on Ambulatory Electrocardiograms in Williams Syndrome
Collins, R. Thomas, MD, Aziz, Peter F., MD, Swearingen, Christopher J., PhD, Kaplan, Paige B., MBBCh
Published in The American journal of cardiology (01.06.2012)
Published in The American journal of cardiology (01.06.2012)
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Immune abnormalities are a frequent manifestation of Kabuki syndrome
Hoffman, Jodi D., Ciprero, Karen L., Sullivan, Kathleen E., Kaplan, Paige B., McDonald-McGinn, Donna M., Zackai, Elaine H., Ming, Jeffrey E.
Published in American journal of medical genetics. Part A (15.06.2005)
Published in American journal of medical genetics. Part A (15.06.2005)
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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss
Bonafede, Lucas, Ficicioglu, Can H, Serrano, Leona, Han, Grace, Morgan, Jessica I W, Mills, Monte D, Forbes, Brian J, Davidson, Stefanie L, Binenbaum, Gil, Kaplan, Paige B, Nichols, Charles W, Verloo, Patrick, Leroy, Bart P, Maguire, Albert M, Aleman, Tomas S
Published in Investigative ophthalmology & visual science (01.12.2015)
Published in Investigative ophthalmology & visual science (01.12.2015)
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Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome
Phomakay, Venusa, Gossett, Jeffrey M, Kaplan, Paige B, Swearingen, Christopher J, Collins, 2nd, R Thomas
Published in Congenital heart disease (01.07.2015)
Published in Congenital heart disease (01.07.2015)
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Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
Venditti, Laura N, Venditti, Charles P, Berry, Gerard T, Kaplan, Paige B, Kaye, Edward M, Glick, Henry, Stanley, Charles A
Published in Pediatrics (Evanston) (01.11.2003)
Published in Pediatrics (Evanston) (01.11.2003)
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Ornithine transcarbamylase deficiency and pancreatitis
Anadiotis, George, Ierardi-Curto, Lynne, Kaplan, Paige B., Berry, Gerard T.
Published in The Journal of pediatrics (01.01.2001)
Published in The Journal of pediatrics (01.01.2001)
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Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation
Tuchman, M, Lichtenstein, G R, Rajagopal, B S, McCann, M T, Furth, E E, Bavaria, J, Kaplan, P B, Gibson, J B, Berry, G T
Published in Annals of internal medicine (15.09.1997)
Published in Annals of internal medicine (15.09.1997)
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Journal Article
Hyperammonia Possibly due to Corticosteroids—Reply
Berry, Gerard T, Kaplan, Paige B, Lichtenstein, Gary R
Published in Archives of neurology (Chicago) (01.07.2000)
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Published in Archives of neurology (Chicago) (01.07.2000)
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A perimortem protocol for suspected genetic disease
Kronick, J B, Scriver, C R, Goodyer, P R, Kaplan, P B
Published in Pediatrics (Evanston) (01.06.1983)
Published in Pediatrics (Evanston) (01.06.1983)
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