Results 41 to 50 of about 1,394 (123)

Overactive ATP-Sensitive K⁺ Channels Compromise Lymphatic Contractile Function in Cantú Syndrome. [PDF]

Function (Oxf), 2023
Aziz Q.
europepmc   +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

Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant. [PDF]

Calcif Tissue Int
Juul TM, Thomsen LK, Andreasen CM, Ejersted C, Folkestad L, Brusgaard K, Hansen S, Thomsen JS, Andersen TL, Frederiksen AL.   +9 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

Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital. [PDF]

Cureus
Manzoor U, Saad M, Ali S, Bano S, Shahzad U, Zain M.   +5 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

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

Complex lethal osteochondrodysplasia [PDF]

, 2020
openaire   +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

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