Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Egense, A"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101221- (2024)
Externí odkaz:
https://doaj.org/article/c4b14d978f294ec4a13e4a405f5e51a6
Publikováno v:
The Application of Clinical Genetics, Vol Volume 16, Pp 41-52 (2023)
Van K Ma,1,2 Rong Mao,3,4 Jessica N Toth,3 Makenzie L Fulmer,3,4 Alena S Egense,1,2 Suma P Shankar1,2,5 1Department of Pediatrics, University of California Davis, Sacramento, CA, USA; 2MIND Institute, University of California Davis, Sacramento, CA, U
Externí odkaz:
https://doaj.org/article/e933fdffc725443788df53b5ac9f734a
Akademický článek
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Autor:
Sofie Holm Egense
Publikováno v:
Tidsskrift for Professionsstudier, Vol 19, Iss 36 (2023)
Externí odkaz:
https://doaj.org/article/18e113ece8ad45bcba9cba14c3aa6f9e
Autor:
Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc
Publikováno v:
Clinical Genetics; Nov2024, Vol. 106 Issue 5, p574-584, 11p
Autor:
Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Background Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verb
Externí odkaz:
https://doaj.org/article/adafd90374a5420e863526f399ca94f6
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101613- (2022)
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease. Observations: Detailed eye evaluations, including visual acuity, visual field, slit l
Externí odkaz:
https://doaj.org/article/dbb2179bcfca475c8c18d5c90a54adf6
Autor:
Punatar, Ruchi1,2 (AUTHOR), Egense, Alena2,3 (AUTHOR), Mao, Rong4,5 (AUTHOR), Procter, Melinda4 (AUTHOR), Bosworth, Michelle4 (AUTHOR), Quigley, Denise I.4 (AUTHOR), Angkustsiri, Kathleen1,2 (AUTHOR), Shankar, Suma P.2,3 (AUTHOR) spshankar@ucdavis.edu
Publikováno v:
Molecular Genetics & Genomic Medicine. Oct2022, Vol. 10 Issue 10, p1-6. 6p.
Publikováno v:
In Genetics in Medicine Open 2024 2 Supplement 1
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
Autor:
Kristin W. Barañano, Amy Kimball, Susan L. Fong, Alena S. Egense, Catherine Hudon, Antonie D. Kline
Publikováno v:
Journal of Child Neurology. 37:390-396
Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange syndrome is made cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edc7136bb672ceb4f009706f0aa3420d
https://doi.org/10.1177/08830738221081244
https://doi.org/10.1177/08830738221081244