Results 221 to 230 of about 123,532 (341)

Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes

open access: yesJournal of the Peripheral Nervous System, Volume 30, Issue 3, September 2025.
ABSTRACT Background and Aims Charcot–Marie–Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are essential.
Endrit Shumeri   +10 more
wiley   +1 more source

Ducroquet's Extension Brace for Treatment of Scoliosis

open access: bronze, 1969
Yoshiharu Takemitsu   +6 more
openalex   +2 more sources

Conservative treatment of adolescent idiopathic scoliosis: the effectiveness of rigid bracing. [PDF]

open access: yesJ Orthop Surg Res
Trofimchuk V   +4 more
europepmc   +1 more source

Preserved ambulation in a puppy with severe thoracolumbar myelodysplasia

open access: yes
Journal of Small Animal Practice, EarlyView.
E. Donoghue, M. Koo, N. Jeffery
wiley   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev   +14 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2 , NDN , and MKRN3 , but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 more
wiley   +1 more source

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