Výsledky vyhledávání - Sumathipala, Dulika

Clinical and genetic features of Huntington disease in Sri Lanka Autor Sumathipala, Dulika S, Jayasekara, Rohan W, Dissanayake, Vajira HW

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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome Autor Sumathipala, Dulika S., Mandawala, Eranda N., Sumanasena, Samanmalee P., Dissanayake, Vajira H. W.

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An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report Autor Sumathipala, Dulika, Gamage, Thilini, Wijesiriwardena, Bandula, Jayasekara, Rohan W., Dissanayake, Vajira H.W.

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Autosomal dominant hereditary ataxia in Sri Lanka Autor Sumathipala, Dulika S, Abeysekera, Gayan S, Jayasekara, Rohan W, Tallaksen, Chantal ME, Dissanayake, Vajira HW

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Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report Autor Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, Bjørndalen, Hilde J., Server, Andrés, Corominas, Jordi, Hassel, Bjørnar, Fannemel, Madeleine, Misceo, Doriana, Frengen, Eirik

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A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease Autor Kay, Chris, Collins, Jennifer A., Caron, Nicholas S., Agostinho, Luciana de Andrade, Findlay-Black, Hailey, Casal, Lorenzo, Sumathipala, Dulika, Dissanayake, Vajira H.W., Cornejo-Olivas, Mario, Baine, Fiona, Krause, Amanda, Greenberg, Jacquie L., Paiva, Carmen Lúcia Antão, Squitieri, Ferdinando, Hayden, Michael R.

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Autor Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana

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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Autor Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana

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Ensembl 2022 Autor Cunningham, Fiona, Allen, James E, Allen, Jamie, Alvarez-Jarreta, Jorge, Amode, M Ridwan, Armean, Irina M, Austine-Orimoloye, Olanrewaju, Azov, Andrey G, Barnes, If, Bennett, Ruth, Berry, Andrew, Bhai, Jyothish, Bignell, Alexandra, Billis, Konstantinos, Boddu, Sanjay, Brooks, Lucy, Charkhchi, Mehrnaz, Cummins, Carla, Da Rin Fioretto, Luca, Davidson, Claire, Dodiya, Kamalkumar, Donaldson, Sarah, El Houdaigui, Bilal, El Naboulsi, Tamara, Fatima, Reham, Giron, Carlos Garcia, Genez, Thiago, Martinez, Jose Gonzalez, Guijarro-Clarke, Cristina, Gymer, Arthur, Hardy, Matthew, Hollis, Zoe, Hourlier, Thibaut, Hunt, Toby, Juettemann, Thomas, Kaikala, Vinay, Kay, Mike, Lavidas, Ilias, Le, Tuan, Lemos, Diana, Marugán, José Carlos, Mohanan, Shamika, Mushtaq, Aleena, Naven, Marc, Ogeh, Denye N, Parker, Anne, Parton, Andrew, Perry, Malcolm, Piližota, Ivana, Prosovetskaia, Irina, Sakthivel, Manoj Pandian, Salam, Ahamed Imran Abdul, Schmitt, Bianca M, Schuilenburg, Helen, Sheppard, Dan, Pérez-Silva, José G, Stark, William, Steed, Emily, Sutinen, Kyösti, Sukumaran, Ranjit, Sumathipala, Dulika, Suner, Marie-Marthe, Szpak, Michal, Thormann, Anja, Tricomi, Francesca Floriana, Urbina-Gómez, David, Veidenberg, Andres, Walsh, Thomas A, Walts, Brandon, Willhoft, Natalie, Winterbottom, Andrea, Wass, Elizabeth, Chakiachvili, Marc, Flint, Bethany, Frankish, Adam, Giorgetti, Stefano, Haggerty, Leanne, Hunt, Sarah E, IIsley, Garth R, Loveland, Jane E, Martin, Fergal J, Moore, Benjamin, Mudge, Jonathan M, Muffato, Matthieu, Perry, Emily, Ruffier, Magali, Tate, John, Thybert, David, Trevanion, Stephen J, Dyer, Sarah, Harrison, Peter W, Howe, Kevin L, Yates, Andrew D, Zerbino, Daniel R, Flicek, Paul

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