Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Torchia, B. S."'
Akademický článek
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Autor:
Zhuang, Jianlong1 (AUTHOR) 415913261@qq.com, Zhang, Na1 (AUTHOR), Wang, Junyu1 (AUTHOR), Jiang, Yuying1 (AUTHOR), Zhang, Hegan2 (AUTHOR), Chen, Chunnuan3 (AUTHOR) chenchunnuan1983@aliyun.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-12. 12p.
Autor:
Olayiwola, Joie O.1,2 (AUTHOR), Marhabaie, Mohammad1 (AUTHOR), Koboldt, Daniel1,3 (AUTHOR), Matthews, Theodora1,3 (AUTHOR), Siemon, Amy1,3 (AUTHOR), Mouhlas, Danielle1,3 (AUTHOR), Porter, Taylor1,3 (AUTHOR), Kyle, George1,3 (AUTHOR), Myers, Cortlandt1,3 (AUTHOR), Mei, Hui1,2,3 (AUTHOR), Hou, Ying‐Chen Claire1,2,3 (AUTHOR), Babcock, Melanie1,2,3 (AUTHOR), Hunter, Jesse1,2,3 (AUTHOR), Schieffer, Kathleen M.1,2,3 (AUTHOR), Akkari, Yassmine1,2 (AUTHOR), Reshmi, Shalini1,2,3 (AUTHOR), Cottrell, Catherine1,2,3 (AUTHOR), Mathew, Mariam T.1,2,3 (AUTHOR), Leung, Marco L.1,2,3 (AUTHOR) marco.leung@nationwidechildrens.org
Publikováno v:
Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-14. 14p.
Autor:
Migeon, B. R., Jeppesen, P., Torchia, B. S., Fu, S., Dunn, M. A., Axelman, J., Schmeckpeper, B. J., Fantes, J., Zori, R. T., Driscoll, D. J.
We have previously reported functional disomy for X-linked genes in females with tiny ring X chromosomes and a phenotype significantly more abnormal than Turner syndrome. In such cases the disomy results from failure of these X chromosomes to inactiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3db8f9f00065932e56459dd285cabca7
https://europepmc.org/articles/PMC1914932/
https://europepmc.org/articles/PMC1914932/
The relationship between the transcriptional state of a locus and the time when it replicates during DNA synthesis is increasingly apparent. Active autosomal genes tend to replicate early, whereas inactive ones are more permissive and frequently repl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::19b05f49df9290fb80900d9bde771a49
https://europepmc.org/articles/PMC1918226/
https://europepmc.org/articles/PMC1918226/
Akademický článek
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Autor:
Hicks, Melissa A.1,2 (AUTHOR), Lalonde, Emilie3 (AUTHOR), Zoladz, Jessica4 (AUTHOR), Gonik, Bernard2 (AUTHOR), Ebrahim, Salah5 (AUTHOR)
Publikováno v:
Case Reports in Genetics. 11/20/2023, p1-5. 5p.
Autor:
Lucia-Campos, Cristina, Parenti, Ilaria, Latorre-Pellicer, Ana, Gil-Salvador, Marta, Bestetti, Ilaria, Finelli, Palma, Larizza, Lidia, Arnedo, María, Ayerza-Casas, Ariadna, Del Rincón, Julia, Trujillano, Laura, Morte, Beatriz, Pérez-Jurado, Luis A., Lapunzina, Pablo, Leitão, Elsa, Beygo, Jasmin, Lich, Christina, Kilpert, Fabian, Kaya, Sabine, Depienne, Christel
Publikováno v:
Frontiers in Genetics; 2024, p1-15, 15p
Publikováno v:
Prenatal Diagnosis; Aug1998, Vol. 18 Issue 8, p849-853, 5p
Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.
Autor:
Cucinotta, Francesca1,2 (AUTHOR), Lintas, Carla3 (AUTHOR), Tomaiuolo, Pasquale1 (AUTHOR), Baccarin, Marco4,5 (AUTHOR), Picinelli, Chiara4 (AUTHOR), Castronovo, Paola4 (AUTHOR), Sacco, Roberto3 (AUTHOR), Piras, Ignazio Stefano3,6 (AUTHOR), Turriziani, Laura1 (AUTHOR), Ricciardello, Arianna1 (AUTHOR), Scattoni, Maria Luisa7 (AUTHOR), Persico, Antonio M.8 (AUTHOR) antonio.persico@unimore.it
Publikováno v:
Molecular Genetics & Genomic Medicine. Aug2023, Vol. 11 Issue 8, p1-16. 16p.