Microcephaly Deafness Syndrome Latest Advances
Find the Latest Research About Microcephaly Deafness Syndrome
Last Updated: 09/26/2026
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Found 327 publications
Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature Review.
Journal: Journal of child neurology
Published: April 25, 2026
Iterative genetic testing identifies SAMHD1 deficiency caused by a homozygous balanced translocation.
Journal: Journal of human immunity
Published: March 13, 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
A novel homozygous MICOS13 frameshift mutation causing mitochondrial hepatoencephalopathy and mtDNA depletion: clinical characterization and dynamic structural simulation.
Journal: Molecular biology reports
Published: November 22, 2025
TASP1-Related Suleiman-El-Hattab Syndrome: The First Genetically Confirmed Case in Iran Accompanied by a Comprehensive Literature Review.
Journal: Journal of molecular neuroscience : MN
Published: October 09, 2025
OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.
Journal: Neurogenetics
Published: September 22, 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
Last Updated: 09/26/2026