Zobrazeno 1 - 10 of 6 752 pro vyhledávání: '"Epstein Cj"'
1
Report
2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics".
Autor: Epstein CJ; Department of Pediatrics and Program in Human Genetics, University of California, San Francisco, CA, USA. cepst@itsa.ucsf.edu
Publikováno v: American journal of human genetics [Am J Hum Genet] 2002 Feb; Vol. 70 (2), pp. 300-13. Date of Electronic Publication: 2001 Dec 26.
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2
Akademický článek
Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development.
Autor: Kızılay, Deniz Özalp1, Özen, Samim1 samim.ozen@ege.edu.tr
Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. Dec2024, Vol. 16 Issue 4, p401-410. 10p.
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3
Akademický článek
Down syndrome frontal cortex layer III and layer V pyramidal neurons exhibit lamina specific degeneration in aged individuals.
Autor: Alldred, Melissa J.1,2 (AUTHOR), Ibrahim, Kyrillos W.1 (AUTHOR), Pidikiti, Harshitha1 (AUTHOR), Chiosis, Gabriela3,4 (AUTHOR), Mufson, Elliott J.5 (AUTHOR), Stutzmann, Grace E.6 (AUTHOR), Ginsberg, Stephen D.1,2,7,8 (AUTHOR) ginsberg@nki.rfmh.org
Publikováno v: Acta Neuropathologica Communications. 11/27/2024, Vol. 12 Issue 1, p1-16. 16p.
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4
Hematopoietic progenitor cells of transgenic mice with increased copper/zinc-superoxide dismutase activity are resistant to tumor necrosis factor
Autor: Carlson E, Sakashita A, Epstein Cj, Koeffler Hp
Publikováno v: Journal of Cellular Physiology. 160:233-238
The mechanism of growth inhibition mediated by tumor necrosis factor (TNF) is unclear. Since recent data strongly suggested that generation of superoxide is a key step in cytotoxicity of TNF, we reasoned that cells expressing high levels of enzymes t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3594e657ce6de401aa47fbd8aca83283
https://doi.org/10.1002/jcp.1041600204
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5
Akademický článek
Melatonin increases superoxide dismutase 2 (SOD2) levels and improves rat ovarian graft function after transplantation.
Autor: Monteiro, Karla Krislane Alves Costa1 (AUTHOR) karlacos06@gmail.com, Damous, Luciana Lamarão1 (AUTHOR), Shiroma, Marcos Eiji1 (AUTHOR), Termini, Lara2 (AUTHOR), Cipolla-Neto, José3 (AUTHOR), Simões, Ricardo dos Santos1 (AUTHOR), da Silva, Rinaldo Florencio4 (AUTHOR), Turri, José Antonio1 (AUTHOR), Baracat, Edmund C.1 (AUTHOR), Soares-Junior, Jose Maria1 (AUTHOR)
Publikováno v: Journal of Ovarian Research. 10/16/2024, Vol. 17 Issue 1, p1-13. 13p.
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6
Akademický článek
Deictic Gesture Production in Children with Autism Spectrum Disorder, Down Syndrome, and Typically Developing Children During Dyadic Interaction.
Autor: Monish V.1 (AUTHOR), Catherine, S. PowlinArockia2 (AUTHOR), Rajasekar, M. K.3 (AUTHOR)
Publikováno v: Journal of Indian Association for Child & Adolescent Mental Health. Oct2024, Vol. 20 Issue 4, p344-351. 8p.
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9
Akademický článek
Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome.
Autor: Dugdale, Hannah F.1,2 (AUTHOR), Levy, Yotam2 (AUTHOR), Jungbluth, Heinz3,4 (AUTHOR), Oldfors, Anders5 (AUTHOR), Ochala, Julien6 (AUTHOR) julien.ochala@sund.ku.dk
Publikováno v: Acta Neuropathologica Communications. 5/24/2024, Vol. 12 Issue 1, p1-11. 11p.
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10
Akademický článek
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Autor: Wu, Ruohao1,2 (AUTHOR), Li, Xiaojuan3 (AUTHOR), Meng, Zhe1,2 (AUTHOR), Li, Pinggan1,2 (AUTHOR), He, Zhanwen1,2 (AUTHOR) hobbyvan@163.com, Liang, Liyang1,2 (AUTHOR) liangliy@mail.sysu.edu.cn
Publikováno v: Orphanet Journal of Rare Diseases. 5/19/2024, Vol. 19 Issue 1, p1-17. 17p.
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