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Last Updated: 10/31/2025
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Found 210 publications
Roberts syndrome with cystic hygroma: a rare clinical presentation of a rare syndrome.
Journal: BMJ case reports
Published: September 05, 2025
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.
Journal: Clinical dysmorphology
Published: July 14, 2025
Functional Activities of Cohesin Proteins Can Be Altered by Chemical Chaperones.
Journal: The protein journal
Published: June 01, 2025
Analysis of combinatorial cohesin subunit gene deletions in budding yeast.
Journal: Genetics
Published: April 04, 2025
Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: October 14, 2024
A Case Report of a Filipino Boy with Childhood Cataract and Clinically Diagnosed Roberts Syndrome.
Journal: Acta medica Philippina
Published: July 05, 2024
Fdo1, Fkh1, Fkh2, and the Swi6-Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae.
Journal: Genetics
Published: June 10, 2024
Role of point-of-care ultrasound in the anesthetic management of Roberts syndrome for cleft surgery.
Role of point-of-care ultrasound in the anesthetic management of Roberts syndrome for cleft surgery.
Journal: Journal of anaesthesiology, clinical pharmacology
Published: May 19, 2024
Associated Anomalies in Radial Ray Deficiency.
Journal: American journal of medical genetics. Part A
Published: February 06, 2024
Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.
Journal: Nature communications
Published: September 01, 2023
Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child.
Journal: Frontiers in genetics
Published: August 31, 2023
Retrospective Evaluation of Urological Problems in Rare Childhood Syndromes.
Journal: Cureus
Published: July 08, 2023
Last Updated: 10/31/2025