Søgeresultater - Walley, Nicole

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network af 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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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey af Cope, Heidi, Barseghyan, Hayk, Bhattacharya, Surajit, Fu, Yulong, Hoppman, Nicole, Marcou, Cherisse, Walley, Nicole, Rehder, Catherine, Deak, Kristen, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Phillips, John A.

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Genetic Determinants of Variable Metabolism Have Little Impact on the Clinical Use of Leading Antipsychotics in the CATIE study af Grossman, Iris, Sullivan, Patrick F., Walley, Nicole, Liu, Youfang, Dawson, Jeffrey R., Gumbs, Curtis, Gaedigk, Andrea, Leeder, J. Steven, McEvoy, Joseph P., Weale, Michael E., Goldstein, David B.

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A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative af 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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Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis af Griffin, Nicole G., Wang, Yu, Hulette, Christine M., Halvorsen, Matt, Cronin, Kenneth D., Walley, Nicole M., Haglund, Michael M., Radtke, Rodney A., Pate Skene, J. H., Sinha, Saurabh R., Heinzen, Erin L.

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The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease af 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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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly af Griffin, Nicole G., Cronin, Kenneth D., Walley, Nicole M., Hulette, Christine M., Grant, Gerald A., Mikati, Mohamad A., LaBreche, Heather G., Rehder, Catherine W., Allen, Andrew S., Crino, Peter B., Heinzen, Erin L.

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D-DEMØ, a distinct phenotype caused by ATP1A3 mutations af Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M., McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L., Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A.

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Host determinants of HIV-1 control in African Americans af Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., Weintrob, Amy C.

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Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions af McCormack, Mark, Urban, Thomas J, Shianna, Kevin V, Walley, Nicole, Pandolfo, Massimo, Depondt, Chantal, Chaila, Elijah, O’Conner, Gerard D, Kasperavičiūtė, Dalia, Radtke, Rodney A, Heinzen, Erin L, Sisodiya, Sanjay M, Delanty, Norman, Cavalleri, Gianpiero L

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Characteristics of undiagnosed diseases network applicants: implications for referring providers af 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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The Duffy Antigen Receptor for Chemokines Null Promoter Variant Does Not Influence HIV-1 Acquisition Or Disease Progression af Walley, Nicole M, Julg, Boris, Dickson, Samuel P., Fellay, Jacques, Ge, Dongliang, Walker, Bruce D, Carrington, Mary, Cohen, Myron S., de Bakker, Paul I.W., Goldstein, David B., Shianna, Kevin V., Haynes, Barton F., Letvin, Norman L., McMichael, Andrew J., Michael, Nelson L., Weintrob, Amy C.

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Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation af Sisodiya, Sanjay M, Thompson, Pamela J, Need, Anna, Harris, Sarah E, Weale, Michael E, Wilkie, Susan E, Michaelides, Michel, Free, Samantha L, Walley, Nicole, Gumbs, Curtis, Gerrelli, Dianne, Ruddle, Piers, Whalley, Lawrence J, Starr, John M, Hunt, David M, Goldstein, David B, Deary, Ian J, Moore, Anthony T

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Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features af 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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Genomic and clinical predictors of lacosamide response in refractory epilepsies af Heavin, Sinéad B., McCormack, Mark, Wolking, Stefan, Slattery, Lisa, Walley, Nicole, Avbersek, Andreja, Novy, Jan, Sinha, Saurabh R., Radtke, Rod, Doherty, Colin, Auce, Pauls, Craig, John, Johnson, Michael R., Koeleman, Bobby P. C., Krause, Roland, Kunz, Wolfram S., Marson, Anthony G., O'Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Stefansson, Hreinn, Striano, Pasquale, Zara, Federico, Depondt, Chantal, Sisodiya, Sanjay, Goldstein, David, Lerche, Holger, Cavalleri, Gianpiero L., Delanty, Norman

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Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science af Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana

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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases af 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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HLA-A★3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans af McCormack, Mark, Alfirevic, Ana, Bourgeois, Stephane, Farrell, John J., Kasperavičiūtė, Dalia, Carrington, Mary, Sills, Graeme J., Marson, Tony, Jia, Xiaoming, de Bakker, Paul I.W., Chinthapalli, Krishna, Molokhia, Mariam, Johnson, Michael R., O’Connor, Gerard D., Chaila, Elijah, Alhusaini, Saud, Shianna, Kevin V., Radtke, Rodney A., Heinzen, Erin L., Walley, Nicole, Pandolfo, Massimo, Pichler, Werner, Park, B. Kevin, Depondt, Chantal, Sisodiya, Sanjay M., Goldstein, David B., Deloukas, Panos, Delanty, Norman, Cavalleri, Gianpiero L., Pirmohamed, Munir

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Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy af Heinzen, Erin L., Depondt, Chantal, Cavalleri, Gianpiero L., Ruzzo, Elizabeth K., Walley, Nicole M., Need, Anna C., Ge, Dongliang, He, Min, Cirulli, Elizabeth T., Zhao, Qian, Cronin, Kenneth D., Gumbs, Curtis E., Campbell, C. Ryan, Hong, Linda K., Maia, Jessica M., Shianna, Kevin V., McCormack, Mark, Radtke, Rodney A., O'Conner, Gerard D., Mikati, Mohamad A., Gallentine, William B., Husain, Aatif M., Sinha, Saurabh R., Chinthapalli, Krishna, Puranam, Ram S., McNamara, James O., Ottman, Ruth, Sisodiya, Sanjay M., Delanty, Norman, Goldstein, David B.

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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay af Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana

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