Results 161 to 170 of about 33,456 (303)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Interplay of Subjective Symptoms Across the Stages of the Schizophrenia Spectrum. [PDF]

Psychiatry Investig
Park HY, Bang M, An SK.
europepmc   +1 more source

Innovative catheter modification for engaging an anomalous right coronary artery: a case report. [PDF]

Eur Heart J Case Rep
Sharma M, Elamin M, Katib H, Thai Kieu N, Mosleh W.   +4 more
europepmc   +1 more source

The construct “limit” and anomalous experiences in psychics

, 2018
El presente estudio tiene como objetivo investigar las diferencias entre individuos autodenominados psíquicos (o videntes) y un grupo de control (no psíquicos) en la variable de frecuencia de experiencias perceptuales inusuales (percepción anómala) y el constructo psicológico de límite.
Parra, Alejandro, Argibay, Juan Carlos
openaire   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A reexamination of nonintentional precognition with openness to experience, creativity, psi beliefs, and luck beliefs as predictors of success.

, 2012
The notion that psi may be able to function without conscious intent and mediate adaptive consequences is a feature of several theories of psi. In particular, Stanford’s “Psi-mediated Instrumental Response” (PMIR) model predicts that psi can operate ...
Sherwood, Simon J.
core  

Gentle tenacity (A Review of "After: A Doctor Explores What Near-Death Experiences Reveal about Life and Beyond")

Journal of Anomalous Experience and Cognition, 2021
Etzel Cardeña
doaj   +1 more source

Multimodality Imaging of Anomalous Left Main Coronary Artery From the Right Sinus of Valsalva. [PDF]

JACC Case Rep
Ibrahim R, Suppah M, Almakadma AH, Martinez F, Chan E.   +4 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Two Uncomplicated Vaginal Deliveries in a Woman With Scimitar Syndrome: A Case Report. [PDF]

Cureus
Tanabe M, Itai T, Akamatsu C, Kondo S, Nakashima R, Kawai S, Imai Y, Miyagi E.   +7 more
europepmc   +1 more source