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Last Updated: 03/06/2025
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Found 2652 publications
The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Journal: Cellular & molecular biology letters
Published: December 07, 2024
Grey matter hypertropia in a child with recurrent seizure: A case report.
Journal: Radiology case reports
Published: November 22, 2024
Bilateral Macular Dysplasia in Coffin-Siris Syndrome.
Journal: Retinal cases & brief reports
Published: November 12, 2024
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Journal: medRxiv : the preprint server for health sciences
Published: November 06, 2024
Response to Correspondence: "Do We Really Want to Go Fishing for Fetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed".
Journal: Prenatal diagnosis
Published: October 21, 2024
Isolated Agenesis of the Corpus Callosum in a Four-Year-Old: A Case of Preserved Cognitive Function Despite Complete Corpus Callosum Absence.
Journal: Cureus
Published: October 08, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.
Journal: Autophagy
Published: September 29, 2024
Do We Really Want to Go Fishing for Foetal CC Dysgenesis (Whatever This Means…)? Extreme Caution is Needed.
Journal: Prenatal diagnosis
Published: September 26, 2024
Colpocephaly and corpus callosum dysgenesis in an adult: A rare case report.
Journal: International journal of surgery case reports
Published: September 17, 2024
Riga-Fede Disease in a Child With Neuropsychomotor Impairment: A Case Report.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: August 30, 2024
Last Updated: 03/06/2025