Results 201 to 210 of about 320,700 (338)

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett   +4 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

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 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

Patient-Reported Factors Associated with the Onset of Hyperfunctional Voice Disorders. [PDF]

open access: yesAnn Otol Rhinol Laryngol, 2021
Kridgen S   +8 more
europepmc   +1 more source

Complementary approaches for voice disorder assessment

open access: green, 2007
Jean-François Bonastre   +7 more
openalex   +2 more sources

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