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Last Updated: 10/31/2025
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Found 5983 publications
Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome.
Journal: Ophthalmic surgery, lasers & imaging retina
Published: October 06, 2025
Beyond the usual suspects: neonatal presentation of Prader-Willi syndrome.
Journal: BMJ case reports
Published: September 25, 2025
Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.
Journal: DNA and cell biology reports
Published: September 19, 2025
Generation and characterization of a knockout mouse of an enhancer of EBF3.
Journal: Biology open
Published: September 17, 2025
Functional classification of GNAI1 disorder variants in C. elegans uncovers conserved and cell-specific mechanisms of dysfunction.
Journal: bioRxiv : the preprint server for biology
Published: September 02, 2025
Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.
Journal: Journal of child neurology
Published: August 26, 2025
The Cumulative Burden of Comorbidities on Complications Following Mandibular Distraction Osteogenesis in Robin Sequence.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: August 25, 2025
Urinary Cytomegalovirus Load at Birth as a Predictor of Sequelae in Congenital Cytomegalovirus Infection.
Journal: The Pediatric infectious disease journal
Published: August 21, 2025
Last Updated: 10/31/2025