Results 211 to 220 of about 324,814 (307)

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart   +5 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

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

Nature positive rhetoric, risk and reality: sector-scale political ecology at CBD COP16. [PDF]

open access: yesNPJ Biodivers
Buckley RC   +6 more
europepmc   +1 more source

Terminology Error

open access: yesJAMA Network Open, 2022
openaire   +2 more sources

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