Last Updated: 09/26/2026
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Found 10 publications
Hypoplastic lower extremity in a child with a mosaic PIK3CA variant.
Journal: JAAD case reports
Published: June 04, 2026
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Journal: Human genetics
Published: August 06, 2021
Signal transducer and activator of transcription 1 gain-of-function with refractory hemophagocytic lymphohistiocytosis.
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: May 01, 2020
Validity of diagnosis and procedure codes for identifying neural tube defects in infants.
Journal: Pharmacoepidemiology and drug safety
Published: March 30, 2020
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Journal: Annals of clinical and translational neurology
Published: June 01, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2019
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Journal: Molecular genetics and metabolism
Published: May 28, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026