Search Results - "Modafferi C"

Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.

Authors: Lauretti G Pietrobono R Niccolini B et al.

Source: European journal of medical genetics [Eur J Med Genet] 2026 Jul 15; Vol. 83, pp. 105093. Date of Electronic Publication: 2026 Jul 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort.

Authors: Modafferi C Tabolacci E Lo Vecchio F et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1402-1411. Date of Electronic Publication: 2024 Sep 26.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE