نتائج البحث - "Stephenson, Sarah EM"

1

Academic Journal

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

المؤلفون: Marsh, Ashley PL, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah EM, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

المصدر: Nature Genetics. 49(4)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/89q47498
https://escholarship.org/content/qt89q47498/qt89q47498.pdf

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2

Academic Journal

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

المؤلفون: Stephenson, Sarah EM, Costain, Gregory, Blok, Laura ER, Silk, Michael A, Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E, Dowling, James J, Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z, Rodan, Lance H, Schwartz, Marc A, Picker, Jonathan, Richmond, Christopher

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, CYCLIN-E, INTELLECTUAL DISABILITY

Relation: The American Journal of Human Genetics; Stephenson, SEM; Costain, G; Blok, LER; Silk, MA; Nguyen, TB; Dong, X; Alhuzaimi, DE; Dowling, JJ; Walker, S; Amburgey, K; Hayeems, RZ; Rodan, LH; Schwartz, MA; Picker, J; Richmond, C; et al., Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome, The American Journal of Human Genetics, 2022, 109 (4), pp. 601-617; http://hdl.handle.net/10072/419476

الاتاحة: http://hdl.handle.net/10072/419476
https://doi.org/10.1016/j.ajhg.2022.03.002

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3

Academic Journal

Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort

المؤلفون: Gao, Yujing, Wilson, Gabrielle R, Salce, Nicholas, Romano, Alexandra, Mellick, George D, Stephenson, Sarah EM, Lockhart, Paul J

مصطلحات موضوعية: Clinical sciences, Neurosciences, Psychology, Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurology

Relation: Frontiers in Neurology; Gao, Y; Wilson, GR; Salce, N; Romano, A; Mellick, GD; Stephenson, SEM; Lockhart, PJ, Genetic Analysis ofRAB39Bin an Early-Onset Parkinson's Disease Cohort, Frontiers in Neurology, 2020, 11, pp. 523; http://hdl.handle.net/10072/398758

الاتاحة: http://hdl.handle.net/10072/398758
https://doi.org/10.3389/fneur.2020.00523

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4

Academic Journal

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

المؤلفون: Delatycki, Martin B, Wolthuizen, Michelle, Collins, Veronica, Varley, Elizabeth, Craven, Joanna, Allen, Katrina J, Gurrin, Lyle C, Aitken, Maryanne, Trembath, M Kaye, Bond, Lyndal, Wilson, Gabrielle R, Stephenson, Sarah EM, Macciocca, Ivan, Hickerton, Chriselle, Lockhart, Paul J, Metcalfe, Sylvia A

المصدر: European Journal of Human Genetics ; volume 20, issue 5, page 505-509 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2011.247
http://www.nature.com/articles/ejhg2011247.pdf
http://www.nature.com/articles/ejhg2011247

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5

Academic Journal

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

المؤلفون: Stephenson, Sarah EM, Djaldetti, Ruth, Rafehi, Haloom, Wilson, Gabrielle R., Gillies, Greta, Bahlo, Melanie, Lockhart, Paul J.

المساهمون: National Health and Medical Research Council Australia, NHMRC program, Victorian State Government Operational Infrastructure, Australian National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme

المصدر: Parkinsonism & Related Disorders ; volume 64, page 308-311 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2019.03.013
https://api.elsevier.com/content/article/PII:S1353802019301063?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1353802019301063?httpAccept=text/plain

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