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Last Updated: 10/31/2025
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Found 98 publications
Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework.
Journal: Genes
Published: February 24, 2025
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Journal: Genetics in medicine open
Published: December 06, 2024
The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 29, 2024
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Journal: Brain communications
Published: March 12, 2024
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Journal: Scientific reports
Published: February 01, 2024
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.
Journal: Pediatric diabetes
Published: January 03, 2024
Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.
Journal: Forensic sciences research
Published: November 18, 2023
Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism.
Journal: Taiwanese journal of obstetrics & gynecology
Published: October 30, 2023
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
Journal: Molecular cytogenetics
Published: August 24, 2023
Clinical features associated with maternal uniparental disomy for chromosome 6.
Journal: Molecular cytogenetics
Published: August 07, 2023
A Case of Maternal Uniparental Disomy of Chromosome 6 with Intrauterine Growth Restriction.
Journal: Alternative therapies in health and medicine
Published: July 20, 2023
Last Updated: 10/31/2025