Results 301 to 310 of about 2,602,328 (411)

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, EarlyView.
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

Peptides rapidly transport antibiotic across the intact tympanic membrane to treat a middle ear infection. [PDF]

Drug Deliv
Kurabi A, Sereno E, Ryan AF.
europepmc   +1 more source

CASES of CEREBRAL ABSCESS in CONNECTION with CHRONIC SUPPURATIVE MIDDLE-EAR DISEASE [PDF]

, 1898
Frank Marsh
openalex   +1 more source

Comprehensive and Clinical Anatomy of the Middle Ear

Cambridge International Law Journal, 2013
S. Mansour, J. Magnan, Hassan Haidar Ahmad, Karen Nicolas, S. Louryan   +4 more
semanticscholar   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Middle ear biofilm and sudden deafness - a light and transmission electron microscopy study. [PDF]

Front Neurol
Li H, Staxäng K, Ladak HM, Agrawal S, Rask-Andersen H.   +4 more
europepmc   +1 more source

Inflation and Medication of the Middle Ear in Non‐Suppurative Otitis Media—E. Oliver Belt—Maryland Med. Journ., December 30, 1899 [PDF]

, 1900
E. D. Lederman
openalex   +1 more source

INTRACRANIAL COMPLICATIONS OF MIDDLE-EAR DISEASE. [PDF]

, 1913
Spencer Mort
openalex   +1 more source

Bacteriome of the Middle Ear in Children and Young Adults With Cholesteatoma and Retraction Pocket: A Pilot Study. [PDF]

OTO Open
Bartos M, Urik M, Buresova L, Holochova P, Budinska E, Linhartova PB.   +5 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source