نتائج البحث - Torene, Rebecca

Uniparental disomy in a population of 32,067 clinical exome trios حسب Scuffins, Julie, Keller-Ramey, Jennifer, Dyer, Lindsay, Douglas, Ganka, Torene, Rebecca, Gainullin, Vladimir, Juusola, Jane, Meck, Jeanne, Retterer, Kyle

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Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report حسب Deuitch, Natalie, Li, Shao-Tzu, Courtney, Eliza, Shaw, Tarryn, Dent, Rebecca, Tan, Veronique, Yackowski, Lauren, Torene, Rebecca, Berkofsky-Fessler, Windy, Ngeow, Joanne

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Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome حسب Torene, Rebecca, Nirmala, Nanguneri, Obici, Laura, Cattalini, Marco, Tormey, Vincent, Caorsi, Roberta, Starck-Schwertz, Sandrine, Letzkus, Martin, Hartmann, Nicole, Abrams, Ken, Lachmann, Helen, Gattorno, Marco

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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders حسب Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.

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Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls حسب Arvai, Kevin J., Roberts, Maegan E., Torene, Rebecca I., Susswein, Lisa R., Marshall, Megan L., Zhang, Zhancheng, Carter, Natalie J., Yackowski, Lauren, Rinella, Erica S., Klein, Rachel T., Hruska, Kathleen S., Retterer, Kyle

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Mobile element insertion detection in 89,874 clinical exomes حسب Torene, Rebecca I., Galens, Kevin, Liu, Shuxi, Arvai, Kevin, Borroto, Carlos, Scuffins, Julie, Zhang, Zhancheng, Friedman, Bethany, Sroka, Hana, Heeley, Jennifer, Beaver, Erin, Clarke, Lorne, Neil, Sarah, Walia, Jagdeep, Hull, Danna, Juusola, Jane, Retterer, Kyle

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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy حسب Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R., Elloumi, Houda Z., Oetjens, Matthew T., Teigen, Claire, Wain, Karen E., Scuffins, Julie, Myers, Scott M., Torene, Rebecca I., Gainullin, Vladimir G., Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H., Retterer, Kyle, Martin, Christa L.

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Evidence for 28 genetic disorders discovered by combining healthcare and research data حسب Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases حسب Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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