Resultados de procura - Jayakar, Parul

PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis por Aggarwal, Varun, Dobrolet, Nancy, Fishberger, Steven, Zablah, Jenny, Jayakar, Parul, Ammous, Zineb

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Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure por Das, Bibhuti B., Hernandez, Lazaro E., Jayakar, Parul, Chatfield, Kathryn C., Chrisant, Maryanne

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Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? por Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.

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Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency por Diaz, Jenna, Fonseca, Ashley G., Arboleda, Richard, Frade, Alejandro, Gennaro, Maria Pilar, Jayakar, Parul, Schleifer, Paula, Hernandez, Erick

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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features por Murray, Clark R., Abel, Samantha N., McClure, Matthew B., Foster, Joseph, Walke, Maria I., Jayakar, Parul, Bademci, Guney, Tekin, Mustafa

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MITOCHONDRIAL DNA DEPLETION SYNDROME DUE TO MUTATIONS IN THE RRM2B GENE por Bornstein, Belén, Area, Estela, Flanigan, Kevin M., Ganesh, Jaya, Jayakar, Parul, Swoboda, Kathryn J., Coku, Jorida, Naini, Ali, Shanske, Sara, Tanji, Kurenai, Hirano, Michio, DiMauro, Salvatore

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Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings por McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna

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A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes por Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy por Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.

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A Case of UDP-Galactose 4′-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-... por Febres-Aldana, Christopher A., Pelaez, Liset, Wright, Meredith S., Maher, Ossama M., Febres-Aldana, Anthony J., Sasaki, Jun, Jayakar, Parul, Jayakar, Anuj, Diaz-Barbosa, Magaly, Janvier, Michelin, Totapally, Bala, Salyakina, Daria, Galvez-Silva, Jorge R.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment por Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum por Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B., Bayat, Allan, Kitzler, Thomas M., Brownstein, Catherine A., Genetti, Casie A., Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W., Zhu, Zehua, Vachet, Clemence, Wilson, Gena R., Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia por Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly por Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect por Metz, Kyle A, Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky-Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R, Parker, Michael J, Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H.B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature por Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies por 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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