Sökresultat - Peña, Loren

Late onset Leigh syndrome mimicking central nervous system vasculitis av Prasun, Pankaj, Del Mar Pena, Loren

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Differentiation-Dependent Chromatin Rearrangement Coincides with Activation of Human Papillomavirus Type 31 Late Gene Expression av Peña, Loren del Mar, Laimins, Laimonis A.

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Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male av Schwab, Joel, Pena, Loren, Sigman, Laura, Waggoner, Darrel

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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease av Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S.

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Long-Term Effect of Interferon on Keratinocytes That Maintain Human Papillomavirus Type 31 av Chang, Yijan E., Pena, Loren, Sen, Ganes C., Park, Jung K., Laimins, Laimonis A.

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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders av Hu, Xiaolin, Baker, Elizabeth K., Johnson, Jodie, Balow, Stephanie, Pena, Loren D. M., Conlin, Laura K., Guan, Qiaoning, Smolarek, Teresa A.

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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network av Spillmann, Rebecca C., McConkie-Rosell, Allyn, Pena, Loren, Jiang, Yong-Hui, Schoch, Kelly, Walley, Nicole, Sanders, Camilla, Sullivan, Jennifer, Hooper, Stephen R., Shashi, Vandana

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Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? av McConkie-Rosell, Allyn, Hooper, Stephen R., Pena, Loren D. M., Schoch, Kelly, Spillmann, Rebecca C., Jiang, Yong-Hui, Cope, Heidi, Palmer, Christina, Shashi, Vandana

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Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in t... av McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., Pena, Loren D.M.

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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database av Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Vockley, Cate Walsh, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A, Arnold, Georgianne L, Vockley, Jerry

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A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative av Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B.

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The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease av McConkie-Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Cope, Heidi, Spillmann, Rebecca, Palmer, Christina G. S., Pena, Loren, Jiang, Yong-Hui, Daniels, Nicole, Walley, Nicole, Tan, Khoon Ghee, Hooper, Stephen R., Shashi, Vandana

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Acute Management of Propionic Acidemia av Chapman, Kimberly A, Gropman, Andrea, MacLeod, Erin, Stagni, Kathy, Summar, Marshall L., Ueda, Keiko, Mew, Nicholas Ah, Franks, Jill, Island, Eddie, Matern, Dietrich, Pena, Loren, Smith, Brittany, Sutton, V. Reid, Urv, Tiina, Venditti, Charles, Chakrapani, Anupam

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Characteristics of undiagnosed diseases network applicants: implications for referring providers av Walley, Nicole M., Pena, Loren D. M., Hooper, Stephen R., Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C., Strong, Kimberly, McCray, Alexa T., Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L., Shashi, Vandana

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease av Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn

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Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features av Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.

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Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling av Marcogliese, Paul C., Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D. P., Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A., Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D., Network, Undiagnosed Diseases, Pena, Loren D. M., Yamamoto, Shinya, Nelson, Stanley F., Might, Matthew, Meyer, Kathrin C., Yeo, Nan Cher, Bellen, Hugo J.

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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder av Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren D M, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen L, McDonald, Marie T, McConkie-Rosell, Allyn, Markert, M Louise, Kranz, Peter G, Stong, Nicholas, Need, Anna C, Bick, David, Amaral, Michelle D, Worthey, Elizabeth A, Levy, Shawn, Wangler, Michael F, Bellen, Hugo J, Shashi, Vandana, Yamamoto, Shinya

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature av Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases av Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana

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