Results 271 to 280 of about 6,142,998 (377)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

The shadow of trauma: impaired mentalization in clinical populations - a systematic review. [PDF]

Psychol Med
Gorgellino M, Kumar G, Parkar Y, Catalan A, Fares-Otero N, Debbané M, Armando M, Alameda L.   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

A Cross-Cultural Study of Social Support from Family, Friends, and Significant Others and Mental Health Among Italian, Spanish, and Portuguese Gay and Lesbian Young Adults. [PDF]

Int J Environ Res Public Health
Picone N, Costa PA, Aparicio-García ME, Affuso G.   +3 more
europepmc   +1 more source

Professor Filip De Fruyt, President of the European Association of Personality Psychology and Fellow of the Society for Industrial and Organizational Psychology, in Romania, 23-25 May 2016, Bucharest

, 2016

openalex   +2 more sources

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Exploring the Links Between Neighborhood Characteristics, Parental Monitoring, and Deviance Among Black and Latinx Adolescents in a New Destination Context. [PDF]

J Community Psychol
Park J, Witherspoon DP, Bámaca MY.
europepmc   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

The REACH VET Program and Mortality Outcomes Among Veterans at High Risk of Suicide.

JAMA Netw Open
Dent KR, Cooper S, McCarthy JF.
europepmc   +1 more source

Awareness of Psychosomatic Medicine in Korea: Results From an Online Survey Conducted With Doctors and the General Public. [PDF]

J Korean Med Sci
Kim HJ, Jeon HJ, Kang WS, Choi JW, Jang SH, Shin C, Lee MS, Sung H, Hong J, Kim SM, Ha JH.   +10 more
europepmc   +1 more source