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Last Updated: 10/31/2025

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Found 264 publications

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

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.

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.

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.

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

The natural course of newborns with transient congenital hypothyroidism.

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.

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.

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.

Chewing and swallowing training in Coffin-Lowry syndrome: A case report.

Journal: Journal of oral rehabilitation
Published: August 31, 2023

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

Journal: BMC pediatrics
Published: July 11, 2023

Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability.

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

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation.

Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation.

Journal: Frontiers in genetics
Published: February 20, 2023

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.

Journal: Psychiatric genetics
Published: September 20, 2022
Showing 1-12 of 264

Last Updated: 10/31/2025