Results 221 to 230 of about 375,523 (294)
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
Research progress on the role of microbiome-immune-neurotransmitter network in post-stroke sleep disorders. [PDF]
Shi W, Wu L, Qin Q, Li Y, Chen W.
europepmc +1 more source
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Sleep Disorders in Climacteric Women: Glutathione, Glutathione S-Transferase P1 and Gut Microbiome Interrelation. [PDF]
Semenova N +9 more
europepmc +1 more source
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Sleep disorders mediate the relationship between work family conflict and burnout in shift nurses. [PDF]
Zheng D +5 more
europepmc +1 more source
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley +1 more source
The effects of sensory stimulation therapy in patients with sleep disorders: a scoping review. [PDF]
Qu Z +6 more
europepmc +1 more source

