Results 221 to 230 of about 163,750 (343)

Multidimensional clinical profiles of Saudi adolescents with idiopathic scoliosis: an exploratory cross-sectional study. [PDF]

Ann Med
Alhafdhi N, Alimam D, Alrashed Alhumaid L, Alamrani S, Bin Shebreen A.   +4 more
europepmc   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Predictive Role of Shoulder Imbalance and Residual C7PL-CSVL in Coronal Imbalance After Surgery for Severe and Rigid Scoliosis: A Retrospective Analysis. [PDF]

Orthop Surg
Yang H, Geng H, Wang J, Huang J, Zhang Y, Wang Y, Zhang Y, Zhou L, Hai Y.   +8 more
europepmc   +1 more source

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

Clinical and radiological outcomes of hybrid technique in the management of AIS with double major curves with more than 5 years follow up

Brain and Spine
K. Emre, Y. Bilge Kagan, B. Peker, H. Mraja, U. Yuzuguldu, H. Gok, A. Sepehr, O.L. Ulusoy, T. Sanli, S. Karadereler, M. Enercan, A. Hamzaoglu   +11 more
doaj   +1 more source

Olisthetic Scoliosis [PDF]

Acta Orthopaedica Scandinavica, 1963
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Epidemiological survey of scoliosis screening in schools among 51,025 adolescents in Gannan Tibetan autonomous prefecture, Gansu Province, China. [PDF]

Front Public Health
Hou D, Yang S, Zhang J, Zhang Y, Yang F, Zhang C, Huang J, Dai C, Wang J, Yuan X, Cui X, Li K, Leng H, Zhao J, Wen J.   +14 more
europepmc   +1 more source

Assessing Spinal Motion at Different Fusion Levels in Adolescents with Idiopathic Scoliosis [PDF]

, 2012
Graf, Adam, Gupta, P., Hammerberg, K., Harris, Gerald F., Hassani, Sahar, Krzak, Joseph, Riordan, M., Sturm, P.   +7 more
core   +1 more source