OLIVIER LICHTARGE to Child, Preschool
This is a "connection" page, showing publications OLIVIER LICHTARGE has written about Child, Preschool.
Connection Strength
0.052
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CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 09; 40(9):1373-1391.
Score: 0.014
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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab. 2018 11; 125(3):281-291.
Score: 0.013
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.013
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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018 02; 107:161-171.
Score: 0.012