Results 131 to 140 of about 1,036 (203)

Management of work stress among arts and science school administrators in Nigeria using rational emotive occupational health coaching: A randomized controlled trial evaluation. [PDF]

open access: yesMedicine (Baltimore)
Chinweuba NH   +9 more
europepmc   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

[Psychotherapeutic burnout interventions-an umbrella review]. [PDF]

open access: yesBundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
Kern S, Jerg-Bretzke L, Beschoner P.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Stress management strategy of Education Scientists with high blood pressure: A case for multivariate analysis and implications for school management system. [PDF]

open access: yesMedicine (Baltimore)
Anyaegbunam N   +15 more
europepmc   +1 more source

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