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Author/Creator Kimonis, Virginia

22. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. Issue 9 (18th May 2018)

Authors:
Singh, Preeti; Mahmoud, Ranim; Gold, June-Anne; Miller, Jennifer L; Roof, Elizabeth; Tamura, Roy; Dykens, Elisabeth; Butler, Merlin G; Driscoll, Dan J; Kimonis, Virginia
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 9(2018)
Page Start:
594
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

25. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Issue 5 (9th June 2020)

Authors:
Kimonis, Virginia; al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizab...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 5(2021)
Page Start:
314
Record Type:
Journal Article
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27. Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells. (15th May 2022)

Authors:
Ferrari, Veronica; Cristofani, Riccardo; Cicardi, Maria E.; Tedesco, Barbara; Crippa, Valeria; Chierichetti, Marta; Casarotto, Elena; Cozzi, Marta; Mina, Francesco; Galbiati, Mariarita; Piccolella, Margherita; Carra, Serena; Vaccari, Thomas; Nalbandian, Angele; Kimonis, Virginia; Fortuna, Tyler R...
Journal:
Neuropathology & applied neurobiology
Issue:
Volume 48:Number 5(2022)
Page Start:
n/a
Record Type:
Journal Article
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28. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome. Issue 7 (10th May 2022)

Authors:
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Caldas Rosa, Erica C.C.; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
900
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗