Rezultati - Juusola, Jane

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency od Sklarz, Tammarah, Hurwitz, Stephanie N., Stanley, Natasha L., Juusola, Jane, Bagg, Adam, Babushok, Daria

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Congenital methemoglobinemia type II in a 5‐year‐old boy od Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, Schrier Vergano, Samantha A.

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Genetic and environmental influences on spontaneous micronuclei frequencies in children and adults: a twin study od Jones, Kimberly H., York, Timothy P., Juusola, Jane, Ferreira-Gonzalez, Andrea, Maes, Hermine H., Jackson-Cook, Colleen

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

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Lessons from a pair of siblings with BPAN od Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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Lessons from a pair of siblings with BPAN od Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C

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De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features od Webster, Emily, Cho, Megan T., Alexander, Nora, Desai, Sonal, Naidu, Sakkubai, Bekheirnia, Mir Reza, Lewis, Andrea, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis od Tan, Queenie K.-G., McConkie-Rosell, Allyn, Juusola, Jane, Gustafson, Kathryn E., Pizoli, Carolyn E., Buckley, Anne F., Jiang, Yong-hui

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A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction od Shao, Qing, Lindstrom, Kristin, Shi, Ruoyang, Kelly, John, Schroeder, Audrey, Juusola, Jane, Levine, Kara L., Esseltine, Jessica L., Penuela, Silvia, Jackson, Michael F., Laird, Dale W.

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Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition od Murdock, David R., Jiang, Yunyun, Wangler, Michael, Khayat, Michael M., Sabo, Aniko, Juusola, Jane, McWalter, Kirsty, Schatz, Krista Sondergaard, Gunay-Aygun, Meral, Gibbs, Richard A.

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Increased Frequency of Micronuclei in Adults with a History of Childhood Sexual Abuse: A Discordant Monozygotic Twin Study od York, Timothy P., Brumelle, Jenni, Juusola, Jane, Kendler, Kenneth S., Eaves, Lindon J., Amstadter, Ananda B., Aggen, Steven H., Jones, Kimberly H., Ferreira-Gonzalez, Andrea, Jackson-Cook, Colleen

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Clinical and genetic characterization of individuals with predicted deleterious PHIP variants od Craddock, Kirsten E., Okur, Volkan, Wilson, Ashley, Gerkes, Erica H., Ramsey, Keri, Heeley, Jennifer M., Juusola, Jane, Vitobello, Antonio, Dupeyron, Marie-Noelle Bonnet, Faivre, Laurence, Chung, Wendy K.

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De novo mutations in PURA are associated with hypotonia and developmental delay od Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans od Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu

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A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients od Musa, Sara, Eyaid, Wafaa, Kamer, Kimberli, Ali, Rehab, Al-Mureikhi, Mariam, Shahbeck, Noora, Al Mesaifri, Fatma, Makhseed, Nawal, Mohamed, Zakkiriah, AlShehhi, Wafaa Ali, Mootha, Vamsi K., Juusola, Jane, Ben-Omran, Tawfeg

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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation od Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Field, Michael, Orlowski, John

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Clinical Utility of Exome Sequencing in Infantile Heart Failure od Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

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The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK od Cheon, Solmi, Kaur, Kiran, Nijem, Nadine, Tuncay, Islam Oguz, Kumar, Pooja, Dean, Milan, Juusola, Jane, Guillen-Sacoto, Maria J., Bedoukian, Emma, Ierardi-Curto, Lynne, Kaplan, Paige, Schaefer, G. Bradley, Mishra, Prashant, Chahrour, Maria H.

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Mobile element insertion detection in 89,874 clinical exomes od 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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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis od Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie

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