Results 191 to 200 of about 87,262 (329)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Speech-in-Noise and Quality-of-Life Measures in School-Aged Children With Normal Hearing and With Unilateral Hearing Loss [PDF]

, 2018
Amanda Griffin, Sarah F. Poissant, Richard L. Freyman   +2 more
openalex   +1 more source

[Analysis of audiological features in infants with unilateral hearing loss]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Xiong F, Xie L, Shi W, Lan L, Ding H, Zhang J, Wang Q.   +6 more
europepmc   +1 more source

Initiating Sensory Science Research in Space Conditions—Current Practices and Future Perspectives

Comprehensive Reviews in Food Science and Food Safety, Volume 24, Issue 5, September 2025.
ABSTRACT Space exploration continues to drive technological and scientific advancements, benefiting both space and Earth. This expanding sector, including commercial space stations, deep‐space missions, and space tourism, presents unique challenges and opportunities for food researchers.
Thejani Prabodha, Lukas Danner, Gail N. Iles, Martina Heer, Isabelle Mack, Charles Brennan, Julia Low   +6 more
wiley   +1 more source

Unilateral congenital hearing loss in children: Challenges and potentials [PDF]

, 2018
Astrid Van Wieringen, An Boudewyns, Anouk Sangen, Jan Wouters, Christian Desloovere   +4 more
openalex   +1 more source

A case report of unilateral conductive hearing loss as a consequence of malignant sinonasal melanoma: the importance of completing a full clinical history and examination [PDF]

, 2020
Victoria Blackabey, Olivia Kenyon, Rishi Talwar   +2 more
openalex   +1 more source

Subjective Fatigue in Children With Unaided and Aided Unilateral Hearing Loss. [PDF]

Laryngoscope, 2023
Bakkum KHE, Teunissen EM, Janssen AM, Lieu JEC, Hol MKS.   +4 more
europepmc   +1 more source

Infrastructure Sabotage as Future‐Making: The Material and Immaterial Power of Constructive Destruction

Antipode, Volume 57, Issue 5, Page 1750-1770, September 2025.
Abstract We propose that a critical examination of infrastructure sabotage should consider its material and immaterial dimension, and its constructive and destructive effects. Combining these two antagonisms, we suggest a matrix of four quadrants that describes (1) deconstructive material effects, (2) constructive material effects, (3) destructive ...
Theo Aalders, Eric Mutisya Kioko
wiley   +1 more source

Vestibular-Evoked Myogenic Potential Findings in Patients with Unilateral Idiopathic Sudden Sensorineural Hearing Loss [PDF]

, 2020
Güler Berkıten, Belgın Tutar, Zıya Saltürk, Tolgar Lütfı Kumral, Muhammed Enis EKİNCİĞLU, Yavuz Uyar, Ömür Biltekin Tuna   +6 more
openalex   +1 more source

Unilateral Hearing Loss as the Sole Presentation of Extensive Intracranial Epidermoid Cyst: A Case Report. [PDF]

Cureus
Alosaimi A, Hafiz BE, Tawfiq IA, Makhdoom N, Almoghthwey TH.   +4 more
europepmc   +1 more source