Results 171 to 180 of about 84,809 (308)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz   +12 more
wiley   +1 more source

Evaluation of occurrence of hallux valgus based on images from podoscope in children

open access: yesJournal of Education, Health and Sport, 2017
Inroduction and aim of the study. Hallux valgus is a deformity where there is a lateral deviation of the proximal phalanx of the big toe. The objective of the study was investigation of the occurrence of hallux valgus based on the image from a podoscope ...
Paulina Sztandera   +2 more
doaj  

The Hallux Metatarsophalangeal Capsule: An Anatomic Study with Respect to Percutaneous Hallux Valgus Correction

open access: gold, 2019
Kenneth Chin   +5 more
openalex   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Frequency of varus and valgus thrust and factors associated with thrust presence in persons with or at higher risk of developing knee osteoarthritis

open access: green, 2010
Alison H. Chang   +11 more
openalex   +2 more sources

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Nada Assaf   +4 more
wiley   +1 more source

Diagnosis and Pathophysiology of Hallux Valgus [PDF]

open access: hybrid, 2014
Kyu-Sun Jang, Tae Wan Kim, Hak Jun Kim
openalex   +1 more source

Assessing Implant Stability in Cementless Femoral Components With Different Interference Fits

open access: yesJournal of Orthopaedic Research, Volume 44, Issue 2, February 2026.
ABSTRACT Cementless total knee arthroplasty implants offer advantages over cemented implants, such as bone preservation and easier revision procedures. However, the optimal interference fit required to achieve a good press‐fit fixation, essential for both primary and long‐term stability, remains uncertain.
Esther Sánchez   +5 more
wiley   +1 more source

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