Results 31 to 40 of about 1,394 (123)

The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study. [PDF]

Orphanet J Rare Dis, 2023
Kolambage YD, Walpita YN, Liyanage UA, Dayaratne BMKDR, Dissanayake VHW.   +4 more
europepmc   +2 more sources

Diastrophic dysplasia: prenatal diagnosis and review of the literature Displasia diastrófica: diagnóstico pré-natal e revisão da literatura

São Paulo Medical Journal, 2013
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj  

Joint Space Widening in Multiple Epiphyseal Dysplasia. [PDF]

Dtsch Arztebl Int, 2023
Madry H.
europepmc   +1 more source

Osteochondrodysplasia [PDF]

, 2020
openaire   +1 more source

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy. [PDF]

J Child Orthop
De Pellegrin M, Filisetti C, Cossutta M, Colombo M, Consiglieri G, Tucci F, Aiuti A, Bernardo ME.   +7 more
europepmc   +1 more source

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

Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report. [PDF]

Medicine (Baltimore)
Lin S, Chen Q, Qi Y, Sun X, Wang W, Jiang K, Zhou X.   +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

Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature. [PDF]

Clin Case Rep
Hamasharef KH, Najmadden ZB, AKhailany R, Rashid MJ, Hamakarim K.   +4 more
europepmc   +1 more source

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report. [PDF]

Mol Genet Genomic Med
Alnuaimi B, Miranda V, Sbrocchi AM, Campeau PM, Campillo S, Lahiry P.   +5 more
europepmc   +1 more source