Results 161 to 170 of about 3,403,301 (253)

Hugh McIsaac interview, 1990

open access: yes, 2013
McIsaac, Hugh - Oral History Interview - CSWA ❧ Interviewed by Elizabeth McBroom on August 9, 1990. An interview with Hugh McIsaac as he discusses his entrance into the field of social work; education; various positions held. ❧ Hugh McIsaac.
McIsaac, Hugh, interview
core  

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Cognitive contact linguistics: placing usage, meaning and mind at the core of contact-induced variation and change Cognitive linguistics research ;, 62./ edited by Eline Zenner, Ad Backus, Esme Winter-Froemel.

open access: yes, 2019
"The collection of papers presented in this volume, which grew out of a theme session organised at the 13th International Cognitive Linguistics Conference (Northumbria, UK, July 2015)"--Page vii.Includes bibliographical references and index.1 online ...
Backus Ad   +2 more
core  

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik   +10 more
wiley   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri   +6 more
wiley   +1 more source

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