Results 181 to 190 of about 11,039 (220)

Multidisciplinary Management of Acute Tetraparesis in an Infant with Achondroplasia, with a Focus on Anesthetic Strategies: A Case Report. [PDF]

Children (Basel)
Nedomová B, Chrenko R, Jakešová S, Zahradníková P, Hanko M, Tichá Ľ.   +5 more
europepmc   +1 more source

Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood. [PDF]

Children (Basel)
Church C, Patil S, Butler S, Miller F, Salazar-Torres JJ, Lennon N, Shrader MW, Donohoe M, Kalisperis F, Mackenzie WGS, Nichols LR.   +10 more
europepmc   +1 more source

Mutations in FGFR3 gene in Croatian patients with achondroplasia and hypochondroplasia

, 2006
Ivona Sansović, Ingeborg Barišić, Darko Antičević   +2 more
openalex   +1 more source

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study. [PDF]

Orphanet J Rare Dis
Fagereng E, Htwe S, McDonald S, Derocher C, Bertoli M, Carter E, Bredahl AM, Blakstvedt T, Wright M, Raggio C, Fredwall S.   +10 more
europepmc   +1 more source

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification. [PDF]

Int J Mol Sci
Wu S, Kondo K, Matsushita Y.
europepmc   +1 more source

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype

Yates TM, Hunt SE, Lemos D, Pericherla SR, Uhalte EC, Ansari M, Thompson L, Doneva SE, Wright CF, Firth HV, Simpson TI.   +10 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Achondroplasia

Best Practice & Research Clinical Rheumatology, 2008
Achondroplasia (MIM 100800) is the most common non-lethal skeletal dysplasia. Its incidence is between one in 10,000 and one in 30,000. The phenotype is characterized by rhizomelic disproportionate short stature, enlarged head, midface hypoplasia, short hands and lordotic lumbar spine, associated with normal cognitive development.
Geneviève, Baujat, Laurence, Legeai-Mallet, Georges, Finidori, Valérie, Cormier-Daire, Martine, Le Merrer   +4 more
  +6 more sources

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Advances in Therapy, 2023
Introduction Vosoritide is the first precision medical therapy approved to increase growth velocity in children with achondroplasia. Sharing early prescribing experiences across different regions could provide a framework for developing practical ...
Oliver Semler, V. Cormier-Daire, E. Lausch, Michael B Bober, Ricki S. Carroll, Sérgio B Sousa, David R Deyle, Maha Faden, Gabriele Hartmann, Aaron J Huser, Janet M. Legare, Klaus Mohnike, T. R. Rohrer, F. Rutsch, Pamela Smith, André M. Travessa, Angela Verardo, Klane K White, William R. Wilcox, J. Hoover-Fong   +19 more
semanticscholar   +1 more source