Results 81 to 90 of about 1,602 (170)

New surgical techniques and social media in orthopaedics. Is a scientific peer-reviewed journal assimilated to a social media platform? [PDF]

Int Orthop, 2023
Scarlat MM, Mavrogenis A, Hernigou P, Waddell JP.   +3 more
europepmc   +1 more source

Complex lethal osteochondrodysplasia [PDF]

, 2020
openaire   +1 more source

Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease. [PDF]

Cell Rep Methods
Petrazzini BO, Balick DJ, Forrest IS, Cho J, Rocheleau G, Jordan DM, Do R.   +6 more
europepmc   +1 more source

Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia. [PDF]

Chin Med J (Engl), 2023
Li S, Lyu S, Fu W, Hu Y, Yue H, Chen L, Zhang Z.   +6 more
europepmc   +1 more source

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases [PDF]

J Clin Res Pediatr Endocrinol
Akyüz A, Atalar H, Çilesiz K, İnci A, Okur İ, Tümer L, Ezgü F.   +6 more
europepmc   +1 more source

Growth cartilage abnormalities in osteochondrodysplasias

, 1979
R Stanescu, V Stanescu, P Maroteaux
core   +1 more source

A novel homozygous <i>TREM2</i> c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review. [PDF]

J Int Med Res
Liu Q, Lin RR, Gao PR, Chen DF, Li HL.
europepmc   +1 more source

Osteochondrodysplasias, Dysostoses, Chromosomal Aberrations, Mucopolysaccharidoses, and Mucolipidoses

, 2005
William H. McAlister, Thomas E. Herman
core   +1 more source

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant. [PDF]

Front Endocrinol (Lausanne)
Lizcano F, Avilés E, López C, Maradei-Anaya S, Ballesteros-García MC, Bustamante L, Luna F, O'Meara M, Valenzuela A.   +8 more
europepmc   +1 more source

Osteochondrodysplasia

, 2013
openaire   +1 more source