Results 271 to 280 of about 391,772 (394)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Effect of deviated nasal septum on Eustachian tube dysfunction: a systematic review and meta-analysis. [PDF]

J Laryngol Otol
Awan MO, Spinos D, Hussain M, Muzaffar J, Khanna A, Qayyum A, Accorona R, Iftikhar H.   +7 more
europepmc   +1 more source

Anatomy of the woodchuck (Marmota monax) / [PDF]

, 2005
Bezuidenhout, A. J. (Abraham Johannes), 1942-, Evans, Howard E. (Howard Edward), 1922-   +1 more
core   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

The nasal septum [PDF]

The Laryngoscope, 1901
openaire   +1 more source

Novel Simplified Nasal Endoscopy Grading System for Hereditary Hemorrhagic Telangiectasia Patients

The Laryngoscope, Volume 136, Issue 2, Page 652-657, February 2026.
We validated a novel, simplified nasal endoscopy grading system for patients with Hereditary Hemorrhagic Telangiectasia (HHT). Our grading (mild, moderate, severe) demonstrated strong correlation with Epistaxis Severity Score (ESS) and Quality of Life (QoL), and showed substantial inter‐rater reliability (ICC = 0.8).
Ethan Soudry, Nimrod Amitai, Aiman Elmograbi, Igor Vainer, Meir Mei‐Zahav   +4 more
wiley   +1 more source

Application of the Multi-line Tension-Reduction Technique in the Surgical Correction of C-shaped Deviations of the Nasal Septum. [PDF]

Cureus
Li Y, Jin GY.
europepmc   +1 more source

Medicare Reimbursement Trends for Mandibular Fracture Repair, 2000–2024

The Laryngoscope, Volume 136, Issue 2, Page 757-765, February 2026.
This study evaluates Medicare reimbursement trends for open mandibular facial fractures procedures from 2000 to 2024. Our results highlight a 24.1% inflation‐adjusted decrease in payments for these procedures, illuminating the need for appropriate funding and resources for physicians. This will help mitigate financial strain for providers and allow for
Om B. Tripathi, Aman M. Patel, Christopher C. Vanison   +2 more
wiley   +1 more source

What Is Your Diagnosis? Splenic Mass in an African Pygmy Hedgehog

Veterinary Clinical Pathology, EarlyView.
Gabriela Hartmann, Milena Carolina Paz, Paola Sônego, Ana Carolina Contri Natal, Lívia Surita, Marcele Bettim Bandinelli, Luciana Sonne   +6 more
wiley   +1 more source