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Last Updated: 01/07/2026
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Found 266 publications
A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 20, 2025
RSK2 and its binding partners: an emerging signaling node in cancers.
Journal: Archives of pharmacal research
Published: March 09, 2025
Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology.
Journal: Journal of child neurology
Published: January 17, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 19, 2024
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 31, 2024
The natural course of newborns with transient congenital hypothyroidism.
Journal: Endocrine connections
Published: July 02, 2024
Airway management of a patient with coffin-lowry syndrome: a case report.
Journal: BMC anesthesiology
Published: May 23, 2024
Identification of RSK substrates using an analog-sensitive kinase approach.
Journal: The Journal of biological chemistry
Published: November 17, 2023
Chewing and swallowing training in Coffin-Lowry syndrome: A case report.
Journal: Journal of oral rehabilitation
Published: August 31, 2023
Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability.
Journal: Neurobiology of disease
Published: March 29, 2023
Last Updated: 01/07/2026