Gerodermia osteodysplastica is caused by mutations in SCYL1BP1 , a Rab-6 interacting golgin von 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

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Abnormalities of Cardiac Repolarization in Williams Syndrome von Collins, R. Thomas, MD, Aziz, Peter F., MD, Gleason, Marie M., MD, Kaplan, Paige B., MBBCh, Shah, Maully J., MBBS

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Relation of Ventricular Ectopic Complexes to QTc Interval on Ambulatory Electrocardiograms in Williams Syndrome von Collins, R. Thomas, MD, Aziz, Peter F., MD, Swearingen, Christopher J., PhD, Kaplan, Paige B., MBBCh

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MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation von JAN, Wajanat, ZIMMERMAN, Robert A, WANG, Zhiyue J, BERRY, Gerard T, KAPLAN, Paige B, KAYE, Edward M

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Immune abnormalities are a frequent manifestation of Kabuki syndrome von Hoffman, Jodi D., Ciprero, Karen L., Sullivan, Kathleen E., Kaplan, Paige B., McDonald-McGinn, Donna M., Zackai, Elaine H., Ming, Jeffrey E.

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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss von 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

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Atypical Williams syndrome in an infant with complete atrioventricular canal defect von Ahrens-Nicklas, Rebecca C., Reichert, Sara L., Zackai, Elaine H., Kaplan, Paige B.

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Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis von Venditti, Laura N, Venditti, Charles P, Berry, Gerard T, Kaplan, Paige B, Kaye, Edward M, Glick, Henry, Stanley, Charles A

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Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome von Phomakay, Venusa, Gossett, Jeffrey M., Kaplan, Paige B., Swearingen, Christopher J., Collins II, R. Thomas

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Ornithine transcarbamylase deficiency and pancreatitis von Anadiotis, George, Ierardi-Curto, Lynne, Kaplan, Paige B., Berry, Gerard T.

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Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome: ECGs in Williams Syndrome von Phomakay, Venusa, Gossett, Jeffrey M., Kaplan, Paige B., Swearingen, Christopher J., Collins, R. Thomas

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Postmortem Protocol von KRONICK, JONATHAN B., SCRIVER, CHARLES R., GOODYER, PAUL R., KAPLAN, PAIGE B.

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A perimortem protocol for suspected genetic disease von Kronick, J B, Scriver, C R, Goodyer, P R, Kaplan, P B

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Invited Perspective: Environmental Chemical-Sensing AHR Remains an Enigmatic Key Player in Toxicology von Kaplan, Barbara L F, Lawrence, B Paige

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Environmental Chemical-Sensing AHR Remains an Enigmatic Key Player in Toxicology von Kaplan, Barbara L.F, Lawrence, B. Paige

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Consensus on the Key Characteristics of Immunotoxic Agents as a Basis for Hazard Identification von Germolec, Dori R, Lebrec, Herve, Anderson, Stacey E, Burleson, Gary R, Cardenas, Andres, Corsini, Emanuela, Elmore, Sarah E, Kaplan, Barbara L F, Lawrence, B Paige, Lehmann, Geniece M, Maier, Curtis C, McHale, Cliona M, Myers, L Peyton, Pallardy, Marc, Rooney, Andrew A, Zeise, Lauren, Zhang, Luoping, Smith, Martyn T

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Five-Year Outcomes of Transcatheter or Surgical Aortic-Valve Replacement von Makkar, Raj R, Thourani, Vinod H, Mack, Michael J, Kodali, Susheel K, Kapadia, Samir, Webb, John G, Yoon, Sung-Han, Trento, Alfredo, Svensson, Lars G, Herrmann, Howard C, Szeto, Wilson Y, Miller, D. Craig, Satler, Lowell, Cohen, David J, Dewey, Todd M, Babaliaros, Vasilis, Williams, Mathew R, Kereiakes, Dean J, Zajarias, Alan, Greason, Kevin L, Whisenant, Brian K, Hodson, Robert W, Brown, David L, Fearon, William F, Russo, Mark J, Pibarot, Philippe, Hahn, Rebecca T, Jaber, Wael A, Rogers, Erin, Xu, Ke, Wheeler, Jaime, Alu, Maria C, Smith, Craig R, Leon, Martin B

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Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis von Misra, Ashish, Sheikh, Abdul Q, Kumar, Abhishek, Luo, Jiesi, Zhang, Jiasheng, Hinton, Robert B, Smoot, Leslie, Kaplan, Paige, Urban, Zsolt, Qyang, Yibing, Tellides, George, Greif, Daniel M

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Factor VIII trafficking to CD4+ T cells shapes its immunogenicity and requires several types of antigen-presenting cells von Kaczmarek, Radoslaw, Piñeros, Annie R., Patterson, Paige E., Bertolini, Thais B., Perrin, George Q., Sherman, Alexandra, Born, Jameson, Arisa, Sreevani, Arvin, Matthew C., Kamocka, Malgorzata M., Martinez, Michelle M., Dunn, Kenneth W., Quinn, Sean M., Morris, Johnathan J., Wilhelm, Amelia R., Kaisho, Tsuneyasu, Munoz-Melero, Maite, Biswas, Moanaro, Kaplan, Mark H., Linnemann, Amelia K., George, Lindsey A., Camire, Rodney M., Herzog, Roland W.

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A 2-Year Randomized Controlled Trial of Human Caloric Restriction: Feasibility and Effects on Predictors of Health Span and Longevity von Ravussin, Eric, Redman, Leanne M, Rochon, James, Das, Sai Krupa, Fontana, Luigi, Kraus, William E, Romashkan, Sergei, Williamson, Donald A, Meydani, Simin N, Villareal, Dennis T, Smith, Steven R, Stein, Richard I, Scott, Tammy M, Stewart, Tiffany M, Saltzman, Edward, Klein, Samuel, Bhapkar, Manju, Martin, Corby K, Gilhooly, Cheryl H, Holloszy, John O, Hadley, Evan C, Roberts, Susan B

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