Analysis of shoulder motion with inertial sensors in Poland syndrome patients.
Porcellini G, Donà A, Novi M, Delvecchio M, Micheloni GM, Giorgini A, Tarallo L, Baldelli I.
Musculoskelet Surg. 2025 Sep;109(3):285-294. doi: 10.1007/s12306-024-00877-3. Epub 2024 Dec 27.
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.
Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, Gimelli G.
Mol Cytogenet. 2015 Nov 5;8:87. doi: 10.1186/s13039-015-0188-6. eCollection 2015.
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
Diehl A, Mu W, Batista D, Gunay-Aygun M.
Am J Med Genet A. 2015 Jul;167(7):1644-9. doi: 10.1002/ajmg.a.37066. Epub 2015 Mar 30.
