Results 211 to 220 of about 75,659 (315)

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 7, Page 990-1004, July 2026.
This original article is commented on by Cuestas on pages 883‐884 of this issue. Portuguese translation of this Original Article is available in the online issue. Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and ...
Hércules Ribeiro Leite   +10 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

open access: yesBrain and Spine
K. Emre   +11 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

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