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pro vyhledávání: '"Spaulding, Joanna"'
Autor:
Spaulding, Joanna, Ammouri, Farah, Nielsen, Shelly, VanDyke, Zephyr, Koerselman, Haley, Zaleski, Dianna, Althof, Pamela, Lulla, Dinesh
Publikováno v:
In Genetics in Medicine Open 2024 2 Supplement 1
Akademický článek
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Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Autor:
Smith, Scott C., Olney, Ann Haskins, Beavers, Angela, Spaulding, Joanna, Nelson, Marilu, Nielsen, Shelly, Sanmann, Jennifer N.
Publikováno v:
American Journal of Medical Genetics. Part A; Sep2020, Vol. 182 Issue 9, p2161-2167, 7p
Autor:
Haggerty A; Warren G. Sanger Human Genetics Laboratory, University of Nebraska Medical Center/Nebraska Medicine, Omaha, Nebraska, USA, abhaggerty@nebraskamed.com., Spaulding J; Warren G. Sanger Human Genetics Laboratory, University of Nebraska Medical Center/Nebraska Medicine, Omaha, Nebraska, USA.; Department of Genetic Medicine, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Fisher S; Department of Medical Sciences, College of Allied Health Professions, University of Nebraska Medical Center, Omaha, Nebraska, USA., Byers B; Department of Obstetrics and Gynecology, Bryan Health, Lincoln, Nebraska, USA., Mahoney N; Gynecology & Fertility, Gynecology & Fertility P.C., Lincoln, Nebraska, USA., Nelson M; Warren G. Sanger Human Genetics Laboratory, University of Nebraska Medical Center/Nebraska Medicine, Omaha, Nebraska, USA., Althof P; Warren G. Sanger Human Genetics Laboratory, University of Nebraska Medical Center/Nebraska Medicine, Omaha, Nebraska, USA., Dave B; Warren G. Sanger Human Genetics Laboratory, University of Nebraska Medical Center/Nebraska Medicine, Omaha, Nebraska, USA.; Department of Genetic Medicine, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Department of Pathology/Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Publikováno v:
Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (11-12), pp. 609-616. Date of Electronic Publication: 2023 Feb 14.