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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
Now showing
1 - 8 of 8
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PublicationClinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability( 2021)
Scopus© Citations 15 25 -
PublicationDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile( 2024)
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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 -
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