Results 141 to 150 of about 87,262 (329)

The Diverse Genetic Landscape of Hearing Impairment in South African Families

open access: yesClinical Genetics, EarlyView.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj   +10 more
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

open access: yesClinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc   +5 more
wiley   +1 more source

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss. [PDF]

open access: yesGenes (Basel), 2023
Vittas S   +5 more
europepmc   +1 more source

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

open access: yesClinical Obesity, EarlyView.
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton   +2 more
wiley   +1 more source

Outcomes of Conventional Amplification for Pediatric Unilateral Hearing Loss [PDF]

open access: green, 2011
Lauren Briggs   +2 more
openalex   +1 more source

Differing postural control patterns in individuals with bilateral and unilateral hearing loss. [PDF]

open access: yesAm J Otolaryngol, 2023
Morris B   +6 more
europepmc   +1 more source

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess the neurological and neurodevelopmental outcome of infants born at term with perinatal intracranial haemorrhage (pICH) and examine the clinical and neuroimaging associations. Method A prospective, consecutive, single‐center observational study of longitudinally followed children with pICH identified in the fetal or neonatal ...
Stephanie Libzon   +9 more
wiley   +1 more source

Cochlear implantation in unilateral hearing loss: impact of short- to medium-term auditory deprivation. [PDF]

open access: yesFront Neurosci, 2023
Ullah MN   +9 more
europepmc   +1 more source

Early detection of infants with neurodevelopmental concerns indicative of cerebral palsy in a lower middle‐income country (India)

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this prospective sub‐study testing the predictive validity of General Movements Assessment (GMA) and/or Hammersmith Infant Neurological Examination (HINE), 785 infants with birth/infant‐detectable risk factors, aged 12 to 40 weeks corrected age were recruited. GMA and HINE were reliable and accurate tools for screening high‐risk populations in India,
Katherine A. Benfer   +13 more
wiley   +1 more source

Impact of Hearing Loss Type on Linguistic Development in Children: A Cross-Sectional Study

open access: yesAudiology Research
Background/Objectives: Hearing loss in childhood is associated with significant challenges in linguistic and cognitive development, particularly affecting language skills such as syntax, semantics, and pragmatics, which are essential for effective ...
Nadia Porcar-Gozalbo   +3 more
doaj   +1 more source

Home - About - Disclaimer - Privacy