Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 653 publications
Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: May 15, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: January 22, 2025
The OsZHD1 and OsZHD2, Two Zinc Finger Homeobox Transcription Factor, Redundantly Control Grain Size by Influencing Cell Proliferation in Rice.
Journal: Rice (New York, N.Y.)
Published: January 18, 2025
Effect of a Unique Dwarfism on Growth, Production, and Reproduction Performance of the Nicobari Chicken Breed.
Journal: The journal of poultry science
Published: October 29, 2024
Co-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.
Journal: JCEM case reports
Published: October 09, 2024
Methimazole-induced congenital hypothyroidism affects gonocytes differentiation and arrests meiosis: role of Sertoli cells.
Journal: Frontiers in cell and developmental biology
Published: September 09, 2024
Preimplantation genetic testing for Cockayne syndrome with a novel ERCC6 variant in a Chinese family.
Journal: Frontiers in genetics
Published: May 20, 2024
Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant.
Journal: Prenatal diagnosis
Published: May 06, 2024
Variable expressivity of a transmitted pathogenic KAT6B variant.
Journal: European journal of medical genetics
Published: February 25, 2024
Last Updated: 10/31/2025