JENNIFER POSEY to Seizures
This is a "connection" page, showing publications JENNIFER POSEY has written about Seizures.
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0.309
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.127
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
Score: 0.034
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282.
Score: 0.033
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Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 05; 185(5):1388-1398.
Score: 0.031
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Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med. 2020 11; 22(11):1863-1873.
Score: 0.030
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406.
Score: 0.028
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The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.026