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POLI HARLOWE, MARIA CECILIA BERTA
Preferred name
POLI HARLOWE, MARIA CECILIA BERTA
Main Affiliation
Email
mpoli@alemana.cl
ORCID
Scopus Author ID
57214078113
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1 - 7 of 7
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PublicationGenetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis( 2018)
Scopus© Citations 130 8 -
PublicationAbsent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency( 2021)
Scopus© Citations 28 6 -
PublicationNovel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome( 2019)
Scopus© Citations 18 4 -
PublicationIdentifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles( 2018)
Scopus© Citations 134 19 -
PublicationFailing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature( 2019)
Scopus© Citations 28 2 -
PublicationHeterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome( 2018)
Scopus© Citations 119 13 -
PublicationHEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease( 2020)
Scopus© Citations 60 10