Results 141 to 150 of about 15,708 (224)

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Ligase-mediated programmable genomic integration (L-PGI). [PDF]

open access: yesNat Commun
Nan AX   +23 more
europepmc   +1 more source

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

Revision Distal Bicep Repair in the Setting of Heterotopic Ossification: Case Study

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
Radiographic and intraoperative findings demonstrating heterotopic ossification following distal biceps tendon repair. ABSTRACT Heterotopic ossification (HO) following distal biceps tendon repair is an uncommon but potential complication. This may present pain, limited range of motion, or sensory changes due to nerve compression.
Aidan M. Brikho   +2 more
wiley   +1 more source

A Simplified Analog Technique for Transfer of Gingival Contours in FP1 Full‐Arch Implant Prostheses: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Accurate transfer of peri‐implant soft tissue contours from provisional to definitive restorations is essential for achieving optimal esthetic and biologic outcomes in FP1 full‐arch implant prostheses. Although digital workflows are increasingly popular, analog techniques remain clinically relevant, particularly in settings where digital ...
Riyadh A. Alzunaydi
wiley   +1 more source

Impact of Open Proximal Contacts on Peri‐Implant Diseases: A Systematic Review and Meta‐Analysis

open access: yesClinical and Experimental Dental Research, Volume 12, Issue 1, February 2026.
ABSTRACT Objectives The aim of this systematic review and meta‐analysis was to evaluate the impact of open proximal contacts on peri‐implant tissue changes, specifically marginal bone levels, probing pocket depth, and the incidence of peri‐implant diseases.
Momen A. Atieh   +5 more
wiley   +1 more source

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