Results 141 to 150 of about 385,840 (284)

Hypochondroplasia: An underrecognized neurodevelopmental disorder

Developmental Medicine &Child Neurology, EarlyView.
Janet M. Legare
wiley   +1 more source

Intraoperative Fluoroscopy for Minimally Invasive Periacetabular Osteotomy: A Standardized Step‐By‐Step Operative Technique

Orthopaedic Surgery, EarlyView.
Standardized intraoperative fluoroscopy provides a reproducible step‐by‐step framework for minimally invasive periacetabular osteotomy, improving the accuracy of pelvic orientation and acetabular reorientation. This technique facilitates a consistent and teachable workflow, supporting safer execution during a procedure known for its steep learning ...
Matthias Wittauer, Batool Bosakhar, Jitendra Balakumar   +2 more
wiley   +1 more source

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia. [PDF]

Nucleus
Hoffmann K, Vayá A, Ricart Vayá JM, Küchler O, Schmidt A, von Kügelgen N, Fischer-Zirnsak B, Sperling K.   +7 more
europepmc   +1 more source

Skeletal Dysplasia (Thanatophoric Dysplasia)

Pediatric Oncall, 2012
Siva Saranappa S B, Madhu G N, Lakshmi V
openaire   +1 more source

When colony‐stimulating factor 1 receptor (CSF1R) breaks the mold

Developmental Medicine &Child Neurology, EarlyView.
Claire Henchcliffe
wiley   +1 more source

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

The 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, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience. [PDF]

Orphanet J Rare Dis
Yi S, Yang Q, Wang L, Zhou X, Zhang S, Qian J, Yi S, Huang J, Chen J, Zhang Q, Chen F, Li J, Wei S, Zhang X, Zhang Q, Pan P, Qin Z, Luo J.   +17 more
europepmc   +1 more source

Drafting the calmodulation playbook: Emerging structural insights into transient receptor potential channel regulation by calmodulin

The Journal of Physiology, EarlyView.
Abstract figure legend Calmodulin (CaM) is a ubiquitous calcium (Ca2+) sensor that translates intracellular Ca2+ signals into modulation of hundreds of effector proteins including ion channels. CaM is increasingly recognized as a key regulator of the transient receptor potential (TRP) channel family, yet the underlying ‘calmodulation playbook’ is only ...
Aden M. Alemayhu, Candice E. Paulsen
wiley   +1 more source

Histopathology of skeletal dysplasia in a Japanese Black calf with marked epiphyseal enlargement. [PDF]

J Vet Med Sci
Nakamura T, Iwata A, Ikezawa M, Tsuji R, Takamura Y, Inagaki K, Masuda T, Hishikawa S, Sunden Y.   +8 more
europepmc   +1 more source

POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, Volume 101, Issue 10, Page 2632-2651, October 2026.
ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley   +1 more source