Results 181 to 190 of about 1,906,948 (373)
Gee-Thaysen Disease: Idiopathic Steatorrhoea of Adults and Adolescents in Non-tropical Countries [PDF]
, 1941 John O’Sullivan, Henry Moore
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Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Caloric Intake in Relation to Energy Output of Obese and Non-Obese Adolescent Boys
, 1959 Patricia A. Stefanik +2 more
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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
Autism Research, Volume 15, Issue 12, Page 2371-2380, December 2022., 2022 Abstract The aim of this study was to examine potential synergistic effects between maternal autoimmune disease and early childhood infections and their association with autism spectrum disorder (ASD) in offspring. Both exposures have been associated with increased risk of ASD in previous studies, but potential synergistic effects remain underexplored.
Timothy C. Nielsen +8 more
wiley +1 more source
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source
Autism Research, Volume 15, Issue 12, Page 2265-2295, December 2022., 2022 Abstract Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms.
Jiedi Lei +5 more
wiley +1 more source
A RECORD OF THE COMMON SORETHROATS OCCURRING AMONGST 400 ADOLESCENTS DURING A PERIOD OF TWENTY-FIVE YEARS. [PDF]
, 1896 Christopher W. Dukes
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