Microcephaly Deafness Syndrome Latest Advances
Find the Latest Research About Microcephaly Deafness Syndrome
Last Updated: 02/24/2026
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Found 327 publications
National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician
Journal: Journal francais d'ophtalmologie
Published: November 23, 2025
Prognostic Factors of Late-onset Hearing Loss in Infants With Congenital Cytomegalovirus and Normal Audiologic Assessment at Birth.
Journal: The Pediatric infectious disease journal
Published: August 21, 2025
Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.
Journal: European journal of medical genetics
Published: August 02, 2025
Neopterin as a marker of congenital cytomegalovirus infection.
Journal: Early human development
Published: July 24, 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
Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.
Journal: American journal of medical genetics. Part A
Published: May 20, 2025
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Journal: Clinical genetics
Published: April 05, 2025
Last Updated: 02/24/2026