Results 101 to 110 of about 1,496 (165)

An overview of the International Consensus Statement on achondroplasia. [PDF]

Orphanet J Rare Dis
Alves I, Fredwall SO, Hughes M, Ireland PJ, Kaisermann MC, Savarirayan R.   +5 more
europepmc   +1 more source

Effects of diadenosine tetraphosphate on FGF9-induced chloride flux changes in achondroplastic chondrocytes. [PDF]

Purinergic Signal, 2011
Huete F, Guzman-Aranguez A, Ortín J, Hoyle CH, Pintor J.   +4 more
europepmc   +1 more source

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences. [PDF]

Orphanet J Rare Dis
Allegri AEM, Bedeschi MF, Bocchi MB, Camurri V, Gonfiantini MV, Leoni C, Mariani M, Palmacci O, Porro M, Riganti S, Tedesco C, Rinaldi B, Scarano E, Schiavariello C, Selicorni A, Stagi S, Verdoni F, Zampino G, Maghnie M, Onesimo R.   +19 more
europepmc   +1 more source

Mouse Models of Syndromic Craniosynostosis. [PDF]

Mol Syndromol, 2019
Lee KKL, Stanier P, Pauws E.
europepmc   +1 more source

Calidad de vida relacionada con la salud en acondroplásicos postalargamiento [PDF]

, 2013
Correa Vázquez, Eva, Cáceres Palou, Enrique, Ginebreda Martí, Ignacio, Universitat Autònoma de Barcelona. Departament de Cirurgia, Universitat Autònoma de Barcelona. Facultat de Medicina   +4 more
core   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source

Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD). [PDF]

J Prenat Med, 2014
Giorlandino C, Mesoraca A, Bizzoco D, Dello Russo C, Cima A, Di Giacomo G, Cignini P, Padula F, Dugo N, D'Emidio L, Brizzi C, Raffio R, Milite V, Mangiafico L, Coco C, Carcioppolo O, Vigna R, Mastrandrea M, Mobili L.   +18 more
europepmc   +1 more source

["Nothing about us without us": deafness in history teaching and historiography, 2015-2022]. [PDF]

Hist Cienc Saude Manguinhos
Fernandes VL.
europepmc   +1 more source

Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity. [PDF]

Acta Orthop, 2012
Song SH, Agashe MV, Huh YJ, Hwang SY, Song HR.   +4 more
europepmc   +1 more source

Displasias esqueléticas en pacientes diagnosticados con Acondroplasia: implicaciones morfológicas y sociales

, 2023
ilustraciones, fotografías Titulo: Displasias esqueléticas en pacientes diagnosticados con acondroplasia: implicaciones morfológicas y sociales. Planteamiento del problema: las displasias esqueléticas conllevan características físicas y del neurodesarrollo que pueden poner en riesgo la salud mental y condicionar a que la enfermedad empeore.
openaire   +1 more source