Søgeresultater - Juusola, Jane

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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 af 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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