Results 71 to 80 of about 528 (154)

Ribbing disease of tibia: a rare entity. [PDF]

BMJ Case Rep, 2021
Panigrahi S, Patro BP, Mohapatra A, Patra SK.   +3 more
europepmc   +1 more source

Familial Touraine-Solente-Gole syndrome. [PDF]

BMJ Case Rep, 2022
Biswas S, Narang H, Rajput MS, Makharia G.   +3 more
europepmc   +1 more source

A primer on skeletal dysplasias. [PDF]

Jpn J Radiol, 2022
Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY.   +4 more
europepmc   +1 more source

Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias. [PDF]

Front Cell Dev Biol, 2021
Lv S, Zhao J, Xi L, Lin X, Wang C, Yue H, Gu J, Hu W, Fu W, Wei Z, Zhang H, Hu Y, Li S, Zhang Z.   +13 more
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease. [PDF]

BMJ Case Rep, 2023
Rafati Fard A, Thornton J, Coles A.
europepmc   +1 more source

Losartan improves clinical outcome in Camurati Engelmann Disease [PDF]

Ahila Ayyavoo, BS Brooke, José GB Derraik, K Janssens, Paul L Hofman, Tim Cundy   +5 more
core   +1 more source

Defining the pathomechanisms of immune dysfunctions by dissecting monogenic TGFB1 and RASGRP1 deficiencies [PDF]

, 2021
Marquardt, Benjamin
core  

Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient. [PDF]

Pediatr Rheumatol Online J
Alkaya A, Yıldız AE, Bağlan E, Özdel S.   +3 more
europepmc   +1 more source

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders. [PDF]

Calcif Tissue Int
Uludağ Alkaya D, Usluer E, Alp Ünkar Z, Şeker A, Adaletli İ, Güneş N, Madazlı R, Kadıoğlu P, Derbent M, Tüysüz B.   +9 more
europepmc   +1 more source