Results 101 to 110 of about 1,610 (176)

Spondylo-ocular syndrome: xylosyltransferase 2 gene mutation and clinical observations-a case report. [PDF]

J Med Case Rep
Amini MJ, Hajishah H, Noorian S, Kazemi D.   +3 more
europepmc   +1 more source

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients. [PDF]

Sci Rep
Refeat MM, Elhossini RM, Hassan HA, Aglan MS, Abdelaleem A, Essawi ML.   +5 more
europepmc   +1 more source

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia. [PDF]

Front Immunol
Liu P, Tian X, Ding D, Wang L, Wang P.
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

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

Tracheobronchopathia osteochondroplastica: A rare case report. [PDF]

Medicine (Baltimore)
Xu C, Wang X, Yin X, Wang X, Liu X, Zhou L, Du F, Jiang Y, Su D, Wang Y.   +9 more
europepmc   +1 more source

[Microcephalic osteodysplastic primary dwarfism type II with hypergonadotropic hypogonadism in a 16-year-old patient]. [PDF]

Probl Endokrinol (Mosk)
Platonov VV, Noskova ED, Skorodok YL, Plotnikova EV, Suspitsin EN, Yakovleva TV, Tsoraeva FZ, Polanskaya MA, Jamiyeva SA.   +8 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

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