Results 171 to 180 of about 163,750 (343)

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

open access: yesGenetics in Medicine, 2019
Jiaqi Liu   +66 more
semanticscholar   +1 more source

Congenital Scoliosis [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1930
openaire   +2 more sources

Outcomes of 87 small‐breed dogs surgically treated for Chiari‐like malformation and syringomyelia

open access: yesVeterinary Surgery, EarlyView.
Abstract Objective To report the outcomes of titanium mesh (TM) cranioplasty without polymethylmethacrylate (PMMA), incorporating a deliberate gap between the foramen magnum decompression (FMD) surface and the TM, in small‐breed dogs with Chiari‐like malformation and syringomyelia (CM/SM). Study design Retrospective clinical study.
Sung Su Park, Ji Young Park, Ho Jae Han
wiley   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise   +2 more
wiley   +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

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