Results 151 to 160 of about 27,998 (224)

Commentary on Quality Improvement Case Series: "Osteogenesis Imperfecta or Non-accidental Trauma". [PDF]

J Pediatr Soc North Am
Franzone JM, Jain M, Su AW, Nijhuis W, Hamdy RC.   +4 more
europepmc   +1 more source

Genotype-based comparison of bone microstructure in adult patients with classical osteogenesis imperfecta. [PDF]

Osteoporos Int
Bartosik M, Prengel M, Delsmann J, Oswald J, Kornak U, Barvencik F, Schinke T, Amling M, Oheim R.   +8 more
europepmc   +1 more source

Minimally Invasive Aortic Valve Replacement in Osteogenesis Imperfecta: A Case Report. [PDF]

Surg Case Rep
Takashima N, Yokoyama C, Tanaka T, Matsui S, Chimada BY, Okuda S, Matsubayashi Y, Miyashita F, Suzuki T.   +8 more
europepmc   +1 more source

Six at Sixty. Commentary on osteogenesis imperfecta 1975-2025. [PDF]

J Med Genet
Sillence D.
europepmc   +1 more source

Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta. [PDF]

Orthop Rev (Pavia)
Alanazi AS, Alshehri AF, Alnowaishiri KA, Al-Hajri JS, Rifadah KA, Alanazi BK, AlGhufaynah MM, Aldossari AM.   +7 more
europepmc   +1 more source

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report. [PDF]

Mol Syndromol
de Freitas Netto F, de Oliveira Sobrinho RP, de Almeida TF, Steiner CE, Brazilian Rare Genomes Project Consortium.   +4 more
europepmc   +1 more source

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue. [PDF]

Sci Rep
Essawi O, Jarayseh T, Tapaneeyaphan P, Bouckaert M, Naessens S, Malfait F, Coppieters F, Coucke PJ.   +7 more
europepmc   +1 more source

Perioperative Care of an Eleven-Year-Old Child With Osteogenesis Imperfecta Type II During Posterior Spinal Fusion. [PDF]

J Med Cases
Soliman A, Hillis M, Kadado A, Martin DP, Tobias JD.   +4 more
europepmc   +1 more source

Identification and functional characterization of a novel pathogenic <i>COL1A1</i> splicing variant in a Chinese family with osteogenesis imperfecta. [PDF]

Front Genet
Nie H, Chen Y, Qin P, Xie G, Zhang D, Sun Y, Mo Y.   +6 more
europepmc   +1 more source

Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature. [PDF]

Int J Mol Sci
Zoller T, Righetti M, Cont R, Lanzafame R, Ambrosetti I, Guzzo A, Pietrobelli A, Antoniazzi F.   +7 more
europepmc   +1 more source