Results 171 to 180 of about 3,527,679 (360)

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

Efficacy and Safety of Toludesvenlafaxine Hydrochloride Sustained-Release Tablets on Somatic Symptoms of Major Depressive Disorder: A Prospective, Single-Arm, Multicenter Clinical Study

open access: yesNeuropsychiatric Disease and Treatment
Yun Wang,1,* Mengxin He,2,* Huifeng Zhang,1 Yanli Luo,2 Xia Sun,2 Zhijian Yao,3 Hao Tang,3 Rui Yan,3 Xiangdong Du,4 Zhe Li,4 Daihui Peng,1 Zhen Wang1 1Mood Disorders Department, Shanghai Mental Health Center, Shanghai Jiao Tong University
Wang Y   +11 more
doaj  

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

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Sleep disorders in evaluation of fatigue

open access: bronze, 1993
James K. Walsh, William C. Dement
openalex   +1 more source

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