MelissaSueJonesMD

PubMed

• 1 citations
  A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
  Hongzheng Dai, Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong-Hui Jiang, John A Phillips, Melissa S Jones, Pengfei Liu, David R Murdock, Lindsay C Burrage, Br...> ;Human Mutation. 2022 Dec 1
• 19 citations
  TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine ...> ;American Journal of Human Genetics. 2021 Sep 2
• 7 citations
  Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
  Hannah Elisabeth Smashey Lewis, Debopam Samanta, Jenny Li Örsell, Katherine A. Bosanko, Amy C. Rowell, Melissa Jones, Russell C. Dale, Sasidharan Taravath, Cecil D. Ha...> ;Pediatric Neurology. 2020 Apr 13
• Precipitation in Manchester: ketorolac/cyclizine.
  Smith RP, Jones M> ;Anaesthesia. 2001-05-01
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