Microcephaly Deafness Syndrome Latest Advances
Find the Latest Research About Microcephaly Deafness Syndrome
Last Updated: 06/30/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 322 publications
Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature Review.
Journal: Journal of child neurology
Published: April 25, 2026
Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.
Journal: The American journal of case reports
Published: February 28, 2026
Rare somatic manifestations of telomere biology disorders.
Journal: Seminars in hematology
Published: February 03, 2026
Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Journal: Klinische Padiatrie
Published: February 02, 2026
Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case.
Journal: Clinical case reports
Published: January 20, 2026
A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review.
Journal: Frontiers in neuroscience
Published: December 02, 2025
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.
Journal: Orphanet journal of rare diseases
Published: September 19, 2025
PUS7 Deficiency: Phenotypical Expansion of PUS7-Related Neurodevelopmental Disorders.
Journal: American journal of medical genetics. Part A
Published: August 18, 2025
Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.
Journal: Molecular genetics and metabolism reports
Published: July 25, 2025
Hearing Loss in Infants and Children with Asymptomatic Congenital Cytomegalovirus Infection: An Update in Diagnosis, Screening and Treatment.
Journal: Diagnostics (Basel, Switzerland)
Published: July 15, 2025
Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.
Journal: Neurology international
Published: June 28, 2025
Value of targeted testing for cytomegalovirus in preterm infants: 7 years' experience at a tertiary London hospital.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: June 01, 2025
Last Updated: 06/30/2026