SARAH NICHOLAS to Infant, Newborn
This is a "connection" page, showing publications SARAH NICHOLAS has written about Infant, Newborn.
Connection Strength
0.231
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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: 0.061
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Early versus delayed diagnosis of SCID: triumph versus tragedy. Clin Immunol. 2011 Jun; 139(3):360-2.
Score: 0.037
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Score: 0.030
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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: 0.028
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Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation. Pediatr Infect Dis J. 2022 05 01; 41(5):430-435.
Score: 0.020
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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 02 17; 139(7):1039-1051.
Score: 0.020
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.015
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Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency. J Allergy Clin Immunol. 2014 Dec; 134(6):1451-1453.e1.
Score: 0.012
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Molecular and descriptive epidemiologyof multidrug-resistant Enterobacteriaceae in hospitalized infants. Infect Control Hosp Epidemiol. 2008 Mar; 29(3):250-5.
Score: 0.008