Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed von Bazerbachi, Fateh, Conboy, Erin E, Mounajjed, Taofic, Watt, Kymberly D, Babovic-Vuksanovic, Dusica, Patel, Shailendra B, Kamath, Patrick S

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An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination von Anderson, Katelynn, Conboy, Erin E., Vance, Gail H., Peterman, Leia A., Weaver, David D.

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Endurance training reduces renal vasoconstriction to orthostatic stress von Conboy, Erin E, Fogelman, Amy E, Sauder, Charity L, Ray, Chester A

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Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review von Cho, Janice, Chen, Joy C Y, Paludo, Jonas, Conboy, Erin E, Lanpher, Brendan C, Alberts, Steven R, Halfdanarson, Thorvardur R

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Otolithic activation on visceral circulation in humans: effect of aging von Sauder, Charity L, Conboy, Erin E, Chin-Sang, Stephanie A, Ray, Chester A

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Dendrite remodeling and other abnormalities in the retinal ganglion cells of Ins2 Akita diabetic mice von Gastinger, Matthew J, Kunselman, Allen R, Conboy, Erin E, Bronson, Sarah K, Barber, Alistair J

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Attenuated mucopolysaccharidosis type VI: The need for a high index of suspicion von Conboy, Erin E., Jin, Jay J., Vairo, Filippo, Lanpher, Brendan

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Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed von Bazerbachi, Fateh, Conboy, Erin E, Mounajjed, Taofic, Watt, Kymberly D, Babovic-Vuksanovic, Dusica, Patel, Shailendra B, Kamath, Patrick S

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Endurance training reduces renal vasoconstriction to orthostatic stress von CONBOY, Erin E, FOGELMAN, Amy E, SAUDER, Charity L, RAY, Chester A

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Dendrite Remodeling and Other Abnormalities in the Retinal Ganglion Cells of Ins2Αkita Diabetic Mice von GASTINGER, Matthew J, KUNSELMAN, Alien R, CONBOY, Erin E, BRONSON, Sarah K, BARBER, Alistair J

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Otolithic activation on visceral circulation in humans : effect of aging von SAUDER, Charity L, CONBOY, Erin E, CHIN-SANG, Stephanie A, RAY, Chester A

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An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination von Peterman, Leia A, Vance, Gail H, Conboy, Erin E, Anderson, Katelynn, Weaver, David D

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Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review von Cho, Janice, Chen, Joy C Y, Paludo, Jonas, Conboy, Erin E, Lanpher, Brendan C, Alberts, Steven R, Halfdanarson, Thorvardur R

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Dendrite Remodeling and Other Abnormalities in the Retinal Ganglion Cells of Ins2Akita Diabetic Mice von Gastinger, Matthew J, Kunselman, Allen R, Conboy, Erin E, Bronson, Sarah K, Barber, Alistair J

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Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder von Liaqat, Khurram, Treat, Kayla, Wilson, Theodore E., Conboy, Erin, Vetrini, Francesco

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Diagnostic deserts: Community‐level barriers to appropriate genetics services von Doyle, Tom A., Conboy, Erin, Halverson, Colin M. E.

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study von Tan, Queenie K-G, McConkie-Rosell, Allyn, Mahoney, Rachel, Spillmann, Rebecca C, Schoch, Kelly, Chanprasert, Sirisak, Acosta, Maria T, Toro, Camilo, Rosenfeld, Jill A, Orengo, James P, Scott, Daryl A, Granadillo, Jorge L, Sisco, Kathleen, Wegner, Daniel J, Tekin, Mustafa, Bivona, Stephanie, Peart, LéShon, Rodan, Lance, Bonner, Devon, Wheeler, Matthew T, Bernstein, Jonathan A, Ruzhnikov, Maura, Adams, David R, Hisama, Fuki M, Shashi, Vandana

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies von Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.

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Amyloid-β(1−42) Rapidly Forms Protofibrils and Oligomers by Distinct Pathways in Low Concentrations of Sodium Dodecylsulfate von Rangachari, Vijayaraghavan, Moore, Brenda D., Reed, Dana Kim, Sonoda, Leilani K., Bridges, Alexander W., Conboy, Erin, Hartigan, David, Rosenberry, Terrone L.

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors von Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E., Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, Kreienkamp, Hans-Jürgen

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