Results 301 to 310 of about 1,737,423 (335)

Detection of cholesteatoma recurrence by magnetic resonance imaging (DWI non-EPI sequence) - how can we minimise false results? [PDF]

Pol J Radiol
Pietraszek M, Stański M, Marszał J, Karmelita-Katulska K, Bartochowska A, Balcerowiak A, Gawęcki W.   +6 more
europepmc   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Simultaneous Translabyrinthine Vestibular Schwannoma Removal and Cochlear Implantation: Assessment of Wireless Connection Speech Test. [PDF]

Laryngoscope Investig Otolaryngol
Kwon M, Kumarasamy G, Moon IS.
europepmc   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Sleep Assessment in Patients with Inner Ear Functional Disorders: A Prospective Cohort Study Investigating Sleep Quality Through Polygraphy Recordings. [PDF]

Audiol Res
Kuryga D, Niedzielski A.
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

Intense low-frequency sound transiently biases human sound lateralisation. [PDF]

PLoS One
Jurado C, Grothe B, Drexl M.
europepmc   +1 more source

Exploratory operation in a patient with spontaneous temporal bone cerebrospinal fluid leaks: A case report. [PDF]

World J Clin Cases
He YS, Zheng Y.
europepmc   +1 more source

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes. [PDF]

BMC Med Genomics
Bi J, Guo W, Ji P, Xie Y.
europepmc   +1 more source

Field-based evaluation of multi-strain PGPR to improve zea mays yield and soil nutrient dynamics in semi-arid of Türkiye. [PDF]

Sci Rep
Kurt PO.
europepmc   +1 more source