SARAH NICHOLAS to Syndrome
This is a "connection" page, showing publications SARAH NICHOLAS has written about Syndrome.
Connection Strength
0.247
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.122
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.055
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 11; 60(11):1092-1104.
Score: 0.043
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Use of enteral immunoglobulin in NEMO syndrome for eradication of persistent symptomatic norovirus enteritis. J Allergy Clin Immunol Pract. 2016 May-Jun; 4(3):539-541.e1.
Score: 0.026