Last Updated: 09/26/2026
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Found 8 publications
Intellectual and developmental disability diagnoses in California delivery records and adverse maternal outcomes.
Journal: Pregnancy (Hoboken, N.J.)
Published: June 05, 2026
Maternal Intellectual and Developmental Disabilities and Infant Outcomes.
Journal: JAMA network open
Published: May 27, 2026
Severe maternal morbidity and hypertensive disorders of pregnancy among women with intellectual disabilities: Identifying potential intervention targets.
Journal: American journal of obstetrics & gynecology MFM
Published: December 03, 2025
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 26, 2020
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 26, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Journal: JIMD reports
Published: September 25, 2019
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Journal: Cold Spring Harbor molecular case studies
Published: March 07, 2017
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
Journal: American journal of medical genetics. Part A
Published: March 05, 2015
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Last Updated: 09/26/2026