Results 131 to 140 of about 10,418 (205)

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

, 2012
Alessandra Pangrazio, Anders Fasth, Andrea Sbardellati, Paul J. Orchard, Kimberly A. Kasow, Jamal Raza, Canan Albayrak, Davut Albayrak, Olivier Vanakker, Barbara De Moerloose, Ashok Vellodi, Luigi D. Notarangelo, Claire Schlack, Gabriele Strauß, Jörn-Sven Kühl, Elena Caldana, Nadia Lo Iacono, S. P. Lucia, Uwe Kornak, Ansgar Schulz, Paolo Vezzoni, Anna Villa, Cristina Sobacchi   +22 more
openalex   +2 more sources

Spontaneous Anterior Arch Fracture of the Atlas Following C1 Laminectomy in a Patient With Osteopetrosis: A Case With Five Years of Follow-Up. [PDF]

Cureus
Ishihama Y, Ikeda T, Iemura S, Toriumi K, Goto K.   +4 more
europepmc   +1 more source

Osteopetrosis.

Canadian journal of surgery. Journal canadien de chirurgie, 1968
J, Robichon, J J, Wiley, J P, Germain
openaire   +1 more source

Head Trauma in Pycnodysostosis: An Imagiological Challenge. [PDF]

Cureus
Faria Tavares C, Silva Costa I, Ruas F, Pereira H.   +3 more
europepmc   +1 more source

Autosomal recessive osteopetrosis

, 2009
Tee Jin
openalex   +1 more source

How I do it: Optic nerve decompression in patient with osteopetrosis. [PDF]

Acta Neurochir (Wien)
Horčičáková K, Táborská J, Bubeníková A, Beneš V.   +3 more
europepmc   +1 more source

Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias. [PDF]

Turk Arch Pediatr
Tüysüz B.
europepmc   +1 more source

Anesthesia management of a child with osteopetrosis

, 2017
MehdiFeiz Dowlat Abadi, Hashem Jarineshin, Fereydoon Fekrat   +2 more
openalex   +1 more source

Pathophysiology of Femoral Fractures in Hypophosphatasia. [PDF]

Curr Osteoporos Rep
Tabegna FGA, Garton M, D'Amore S, Skingle L, Dillon S, Duer MJ, Clunie GPR, Poole KES.   +7 more
europepmc   +1 more source

Renal tubular acidosis: Varied aetiologies and clinical presentations: Three case reports. [PDF]

World J Nephrol
Bhandarkar A, Varmudy A, Boro H, Bhat S.
europepmc   +1 more source