Results 101 to 110 of about 1,602 (170)

Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia. [PDF]

Pediatr Nephrol
Bokenkamp A, Bouts A, van der Weerd N, Levtchenko E, Haffner D, Zivicnjak M.   +5 more
europepmc   +1 more source

Multiple Joint Replacements for Progressive Pseudorheumatoid Dysplasia: A Case Report. [PDF]

J Orthop Case Rep
Outrequin A, Manon J, Paulmier A, Putineanu D, Docquier PL, Cornu O.   +5 more
europepmc   +1 more source

Reclassification of <i>PAPSS2</i> Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction. [PDF]

Medicina (Kaunas)
Bozlak S, Yavas C, Eslamkhah S.
europepmc   +1 more source

Total knee arthroplasty with simultaneous triplanar osteotomy of the distal femur using patient-specific instrumentation : A case report. [PDF]

Orthopadie (Heidelb)
Szerksznis W, Tramś E, Kamiński R, Grzelecki D.   +3 more
europepmc   +1 more source

Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report. [PDF]

Int J Mol Sci
Chojnacka K, Sibrecht G, Gruca-Stryjak K, Szczapa T.   +3 more
europepmc   +1 more source

Perinatal outcomes in 35 children with cartilage hair hypoplasia. [PDF]

Orphanet J Rare Dis
Kasanen E, Toiviainen-Salo S, Vakkilainen S, Kainulainen L, Tanner L, Makitie O.   +5 more
europepmc   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia. [PDF]

Clin Genet
Dong L, Ho KC, Tan Z, He Y, Zhou Y, Yin S, Feng L, Wong JSH, Tsun To MK.   +8 more
europepmc   +1 more source

Emerging concepts in osteoarthritis and musculoskeletal diseases: Insights from the University of Debrecen Musculoskeletal Symposium 2025. [PDF]

Osteoarthr Cartil Open
Kovács P, Vágó J, Mobasheri A, Jenei-Lanzl Z, Zaucke F, Madry H, Csernoch L, Szekanecz Z, Szondy Z, Szöőr Á, Szatmari I, Oláh T, Matta C.   +12 more
europepmc   +1 more source

ICD-10-based screening increased detection of hospitalisations potentially eligible for paediatric palliative care consultation in the emergency department: a validation study. [PDF]

BMC Palliat Care
de Mello V, de Almeida Campos MS, de Araújo Neves N, Oliveira TZ, Rodrigues JPV, Volpon LC, Frangiotti MAC, Zanetti MOB, Pereira LRL, Varallo FR.   +9 more
europepmc   +1 more source

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis. [PDF]

BMC Med Genomics
Chen A, Zhang W, Long P, Chen X, Zhang A, Zhu H, Zeng L, Xiong F, Wang J, Zhu S, Zhou P.   +10 more
europepmc   +1 more source