Associated Papers
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P et al.
Ebiomedicine, 2024
39191170 (PubMed )
Supplement: mmc1.pdf
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Al-Amrani F et al.
Pediatric Neurology, 2023
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.
Yamada M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
The developmental biology of genetic Notch disorders.
Mašek J et al.
Development (cambridge, England), 2017
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2016
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2015
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