Results 151 to 160 of about 35,518 (257)

Basilar invagination in osteogenesis imperfecta-Case report. [PDF]

Radiol Case Rep
Aviyani A, Mahmudah R.
europepmc   +1 more source

Pregnancy-Related Complications in Osteogenesis Imperfecta. [PDF]

Obstet Gynecol
Collier M, Hannoun P, Cormier-Daire V, Treluyer JM, Benachi A, Koumakis E.   +5 more
europepmc   +1 more source

A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss

, 2023
Ti-Ti Pan, Han Lin, Hongwei Zheng, Zhimin Xing, Lisheng Yu, Yuanjun Liu   +5 more
openalex   +1 more source

Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants [PDF]

Bingna Zhou, Peng Gao, Jing Hu, Xiaoyun Lin, Lei Sun, Qian Zhang, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li   +10 more
openalex   +1 more source

Author response for "Compound heterozygous frameshift mutations in MESD cause a lethal syndrome suggestive of osteogenesis imperfecta type XX"

, 2021
Julian Stürznickel, Katharina Jähn, Jozef Zustin, Anna Floriane Hennig, Maximilian M. Delsmann, Katharina Schoner, Helga Rehder, Alfons Kreczy, Thorsten Schinke, Michael Amling, Uwe Kornak, Ralf Oheim   +11 more
openalex   +1 more source

Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]

J Vet Diagn Invest
Takanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc   +1 more source

Osteogenesis imperfecta oder frühe Osteomalacie als Grundlage der idiopathischen Osteopsathyrosis?

, 1908
Axhausen
openalex   +2 more sources

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease. [PDF]

Clin Sci (Lond)
Cotti S, Pérez Franco W, Forlino A.
europepmc   +1 more source

Post-translational modifications of collagen type I in osteogenesis imperfecta: Systematic review and meta-analysis. [PDF]

Bone Rep
Patel P, Aksornthong S, Komarova SV.
europepmc   +1 more source

The IMPACT Survey: The Humanistic Impact of Caring for an Individual with Osteogenesis Imperfecta. [PDF]

Adv Ther
Westerheim I, Rauch F, Hart T, Wekre LL, van Welzenis T, Raggio C, Mulhall H, Battersby A, Prince S, Semler O.   +9 more
europepmc   +1 more source