Koki Nagai
Yokohama, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications
Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.
Journal: Congenital anomalies
Published: February 20, 2026
A Case Report of Arrhythmia in ZFHX3-Related Neurodevelopmental Disorder.
Journal: Congenital anomalies
Published: February 09, 2026
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.
Journal: Neurogenetics
Published: October 12, 2025
Improvement in Sitting Balance by Exercises With a Standing Unstable Board Combined With Transcutaneous Electrical Nerve Stimulation to the Neck: A Study of Two Cases.
Journal: Cureus
Published: September 23, 2025
Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.
Journal: Clinical genetics
Published: August 12, 2025
A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: July 09, 2025
Righting Reaction in Hemiplegic Stroke Survivors: Impact of Lower Limb Motor Paralysis Severity.
Journal: Cureus
Published: April 16, 2025
Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.
Journal: Journal of medical genetics
Published: December 27, 2024
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness.
Journal: American journal of medical genetics. Part A
Published: October 25, 2024
Immediate effects of standing unstable board intervention on the non-paralyzed leg on sitting balance in severe hemiplegia: a randomized controlled trial.
Journal: Topics in stroke rehabilitation
Published: January 15, 2024
Frontiers of Collaboration between Primary Care and Specialists in the Management of Metabolic Dysfunction-Associated Steatotic Liver Disease: A Review.
Journal: Life (Basel, Switzerland)
Published: October 04, 2023
Intra- and inter-rater reliability of angle assessment for righting reaction from a tilted sitting position in healthy participants.
Journal: Journal of physical therapy science
Published: January 30, 2023
Last Updated: 09/26/2026