Microcephaly Deafness Syndrome Latest Advances

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Journal: The American journal of case reports

Published: February 28, 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

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

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 17, 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

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Journal: Neuroscience bulletin

Published: March 31, 2025

Congenital toxoplasmosis: an observational retrospective study in the Eastern Sicily.

Journal: Frontiers in pediatrics

Published: March 20, 2025

Microcephaly Deafness Syndrome Latest Advances

Find the Latest Research About Microcephaly Deafness Syndrome

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review.

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review.

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Hearing Loss in Infants and Children with Asymptomatic Congenital Cytomegalovirus Infection: An Update in Diagnosis, Screening and Treatment.

Hearing Loss in Infants and Children with Asymptomatic Congenital Cytomegalovirus Infection: An Update in Diagnosis, Screening and Treatment.

Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.

Value of targeted testing for cytomegalovirus in preterm infants: 7 years' experience at a tertiary London hospital.

Value of targeted testing for cytomegalovirus in preterm infants: 7 years' experience at a tertiary London hospital.

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

Congenital toxoplasmosis: an observational retrospective study in the Eastern Sicily.

Congenital toxoplasmosis: an observational retrospective study in the Eastern Sicily.