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European Journal of Human Genetics (2)
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Showing 1–4 of 4 results

Advanced filters: Author: Elisa Gelli Clear advanced filters

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Liborio Stuppia
Ivana Antonucci
Bruno Dallapiccola
Research04 May 2005
European Journal of Human Genetics

Volume: 13, P: 959-964
Clonal hematopoiesis impacts frailty in newly diagnosed multiple myeloma patients: a retrospective multicenter analysis

Elisa Gelli
Claudia Martinuzzi
Michele Cea
ResearchOpen Access26 Nov 2024
Scientific Reports

Volume: 14, P: 1-15
Monoallelic gene expression in developing cells increases genetic noise and Shannon entropy

The authors investigate the influence of genomic imprinting on genetic noise using complementary approaches. They estimate the expected increase in genetic noise associated with monoallelic expression by employing modelling and simulation techniques.

Robert Wolff
Edoardo Balzani
Valter Tucci
ResearchOpen Access04 Jun 2025
Communications Biology

Volume: 8, P: 1-9
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Valentina Imperatore
Anna Maria Pinto
Francesca Ariani
Research17 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 1026-1037