Results 151 to 160 of about 3,449,855 (345)

Vocal quality evaluation in children without voice disorders: a prospective and double-blind study

open access: green, 2003
Geraldo Pereira Jotz   +5 more
openalex   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Conceptualising quality early childhood education: Learning from young children in Brazil and South Africa through creative and play‐based methods

open access: yesBritish Educational Research Journal, EarlyView., 2023
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright   +8 more
wiley   +1 more source

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican 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   +3 more
wiley   +1 more source

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

open access: yes
American Journal of Hematology, EarlyView.
Nia Choi   +11 more
wiley   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto   +2 more
wiley   +1 more source

Genomic Analysis of Trichotillomania

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen   +4 more
wiley   +1 more source

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