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European Journal of Human Genetics : EJHG|January 21, 2011
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian populationRossella Sorice, Silvia Bione, Serena Sansanelli, et al.Human Reproduction (Oxford, England)|October 26, 2007
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrheaTeresa D Gallardo, George B John, Karen Bradshaw, et al.Human Molecular Genetics|September 11, 2008
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failureMahmoud Reza Mansouri, Jens Schuster, Jitendra Badhai, et al.International Journal of Molecular Sciences|May 13, 2023
Alternative Splicing Changes Promoted by NOVA2 Upregulation in Endothelial Cells and Relevance for Gastric CancerAnna Di Matteo, Elisa Belloni, Davide Pradella, et al.Plos One|October 23, 2009
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genesMichela Traglia, Cinzia Sala, Corrado Masciullo, et al.Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.International Journal of Molecular Sciences|March 6, 2021
A Role for Human DNA Polymerase λ in Alternative Lengthening of TelomeresElisa Mentegari, Federica Bertoletti, Miroslava Kissova, et al.American Journal of Human Genetics|August 3, 2019
Bi-allelic TARS Mutations Are Associated with Brittle Hair PhenotypeArjan F Theil, Elena Botta, Anja Raams, et al.Human Molecular Genetics|April 28, 2021
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophyElena Botta, Arjan F Theil, Anja Raams, et al.American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndromeValentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, et al.Pageof 4