Results 181 to 190 of about 3,577,658 (389)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

Is it too loud? Ask your brain!

open access: yesNeuroImage
Purpose: In this study, the objectification of the subjective perception of loudness was investigated using electroencephalography (EEG). In particular, the emergence of objective markers in the domain of the acoustic discomfort threshold was examined ...
Philipp Zelger   +3 more
doaj  

Criteria for selecting children for speech therapy in the public schools [PDF]

open access: yes, 1961
Thesis (Ed.M.)--Boston ...
Driben, Margo, Rubin, Lillian B.
core  

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales   +6 more
wiley   +1 more source

A multimodal approach to automated hierarchical assessment of bulbar involvement in amyotrophic lateral sclerosis

open access: yesFrontiers in Neurology
IntroductionAs a hallmark feature of amyotrophic lateral sclerosis (ALS), bulbar involvement leads to progressive declines of speech and swallowing functions, significantly impacting social, emotional, and physical health, and quality of life.
Panying Rong   +2 more
doaj   +1 more source

Reference equivalent threshold sound pressure levels for the Wireless Automated Hearing Test System. [PDF]

open access: yesJ Acoust Soc Am, 2022
Clavier OH   +10 more
europepmc   +1 more source

Meniere's disease: A surgeon's tactics [PDF]

open access: yes
Surgical procedures for treating Meniere's disease are discussed. Based on the results of 250 operations, it is concluded that interventions are sufficiently effective not only with vestibular dysfunction, but also with hearing disorders.
Soldatov, I.
core   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Assessing the feasibility of an intervention for adolescents and parents transitioning out of paediatric eating disorder services: A mixed methods study

open access: yesEuropean Eating Disorders Review, EarlyView., 2023
Abstract Objective To assess the feasibility of a new intervention designed to support adolescents and parents in the transition from paediatric eating disorder (ED) treatment to adult mental health services. Method Pre‐transition adolescents with EDs, and their parents, were invited to complete up to five transition intervention components over 3 ...
Maria Nicula   +9 more
wiley   +1 more source

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