Results 121 to 130 of about 194,711 (287)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
Application of high resolution computed tomography image assisted classification model of middle ear diseases based on 3D-convolutional neural network. [PDF]
Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022 Su R +6 more
europepmc +1 more source
Live imaging and functional changes of the inner ear in an animal model of Meniere’s disease [PDF]
, 2020 Akinobu Kakigi +6 more
openalex +1 more source
The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst +4 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Growth Hormone Treatment Does Not Affect Incidences of Middle Ear Disease or Hearing Loss in Infants and Toddlers with Turner Syndrome [PDF]
, 2010 Marsha L. Davenport +7 more
openalex +1 more source
Efficacy of Local Bupivacaine Injection of Postoperative Pain in Endoscopic Sinus Surgery
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Regional anesthesia is effective in alleviating postoperative pain and reducing the requirement for systemic pain medications. However, optimal postoperative pain management in endoscopic sinus surgery (ESS) remains challenging.
Wiracha Leewannapasai +4 more
wiley +1 more source
NONSPECIFIC INFLAMMATORY DISEASES OF THE MIDDLE EAR
, 2007 I. D. Shlyaga, K. P. Miadzvedzeva
openalex +2 more sources