Resultados da busca - Brownstein, Catherine A

The Potential Research Impact of Patient Reported Outcomes on Osteogenesis Imperfecta por Brownstein, Catherine A., Wicks, Paul

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Potential for Electronic Health Records and Online Social Networking to Redefine Medical Research por Pearson, John F., Brownstein, Catherine A., Brownstein, John S.

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A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood por Keywan, Christine, Holm, Ingrid A., Poduri, Annapurna, Brownstein, Catherine A., Alexandrescu, Sanda, Chen, Jennifer, Geffre, Christopher, Goldstein, Richard D.

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The role of sodium channels in sudden unexpected death in pediatrics por Rochtus, Anne M., Goldstein, Richard D., Holm, Ingrid A., Brownstein, Catherine A., Pérez‐Palma, Eduardo, Haynes, Robin, Lal, Dennis, Poduri, Annapurna H.

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Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse por Brownstein, Catherine A., Zhang, Junhui, Stillman, Althea, Ellis, Bruce, Troiano, Nancy, Adams, Douglas J., Gundberg, Caren M., Lifton, Richard P., Carpenter, Thomas O.

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SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures por Palmer, Samantha, Towne, Meghan C., Pearl, Phillip L., Pelletier, Renee C., Genetti, Casie A., Shi, Jiahai, Beggs, Alan H., Agrawal, Pankaj B., Brownstein, Catherine A.

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A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism por Brownstein, Catherine A., Adler, Felix, Nelson-Williams, Carol, Iijima, Junko, Li, Peining, Imura, Akihiro, Nabeshima, Yo-ichi, Reyes-Mugica, Miguel, Carpenter, Thomas O., Lifton, Richard P.

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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis por Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius

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AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant por Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.

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Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy por Mehta, Paulomi, Küspert, Melanie, Bale, Tejus, Brownstein, Catherine A, Towne, Meghan C., De Girolami, Umberto, Shi, Jiahai, Beggs, Alan H., Darras, Basil T., Wegner, Michael, Piao, Xianhua, Agrawal, Pankaj B.

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Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death por Cao, Siqi, Smith, Laura L., Padilla-Lopez, Sergio R., Guida, Brandon S., Blume, Elizabeth, Shi, Jiahai, Morton, Sarah U., Brownstein, Catherine A., Beggs, Alan H., Kruer, Michael C., Agrawal, Pankaj B.

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Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome por Thaker, Vidhu V., Esteves, Kristyn M., Towne, Meghan C., Brownstein, Catherine A., James, Philip M., Crowley, Laura, Hirschhorn, Joel N., Elsea, Sarah H., Beggs, Alan H., Picker, Jonathan, Agrawal, Pankaj B.

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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations por Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.

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Congenital Heart Defects Due to TAF1 Missense Variants por Morton, Sarah U., Agarwal, Radhika, Madden, Jill A., Genetti, Casie A., Brownstein, Catherine A., López-Giráldez, Francesc, Choi, Jungmin, Seidman, Christine E., Seidman, Jonathan G., Lyon, Gholson J., Agrawal, Pankaj B.

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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition por Brownstein, Catherine A., Towne, Meghan C., Luquette, Lovelace J., Harris, David J., Marinakis, Nicholas S., Meinecke, Peter, Kutsche, Kerstin, Campeau, Philippe M., Yu, Timothy W., Margulies, David M., Agrawal, Pankaj B., Beggs, Alan H.

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Genetic Determinants of Sudden Unexpected Death in Pediatrics por Koh, Hyun Yong, Haghighi, Alireza, Keywan, Christine, Alexandrescu, Sanda, Plews-Ogan, Erin, Haas, Elisabeth A., Brownstein, Catherine A., Vargas, Sara O., Haynes, Robin L., Berry, Gerard T., Holm, Ingrid A., Poduri, Annapuma H., Goldstein, Richard D.

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Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals por Wojcik, Monica H., Wierenga, Klaas J., Rodan, Lance H., Sahai, Inderneel, Ferdinandusse, Sacha, Genetti, Casie A., Towne, Meghan C., Peake, Roy W. A., James, Philip M., Beggs, Alan H., Brownstein, Catherine A., Berry, Gerard T., Agrawal, Pankaj B.

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De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report por Mavros, Chrystal F., Brownstein, Catherine A., Thyagrajan, Roshni, Genetti, Casie A., Tembulkar, Sahil, Graber, Kelsey, Murphy, Quinn, Cabral, Kristin, VanNoy, Grace E., Bainbridge, Matthew, Shi, Jiahai, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Gonzalez-Heydrich, Joseph

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Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance por Russell, Bianca, Johnston, Jennifer J, Biesecker, Leslie G., Kramer, Nancy, Pickart, Angela, Rhead, William, Tan, Wen-Hann, Brownstein, Catherine A, Clarkson, L Kate, Dobson, Amy, Rosenberg, Avi Z, Schrier Vergano, Samantha A., Helm, Benjamin M., Harrison, Rachel E, Graham, John M

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SCN1A Variants Associated with Sudden Infant Death Syndrome por Brownstein, Catherine A, Goldstein, Richard D., Thompson, Christopher H., Haynes, Robin L., Giles, Emma, Sheidley, Beth, Bainbridge, Matthew, Haas, Elisabeth A., Mena, Othon J., Lucas, Jonathan, Schaber, Bethann, Holm, Ingrid A., George, Alfred L., Kinney, Hannah C., Poduri, Annapurna H.

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