Results 201 to 210 of about 3,516,105 (273)

Open-label placebo for non-specific pain in the emergency department (OLP EM): study protocol for a mixed-method randomised control feasibility study in Switzerland. [PDF]

BMJ Open
Degen B, Szczesna A, Nickel CH, Bingisser R, Gaab J, Minotti B.   +5 more
europepmc   +1 more source

The Role of Health Psychology in Surgical Prehabilitation: Insights From REST, a Preoperative Sleep Intervention for Total Knee Replacement Patients. [PDF]

Musculoskeletal Care
Whale K, Johnson E, Gooberman-Hill R.
europepmc   +1 more source

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita, Takuya Ogawa, Mamiko Yamada, Chisen Takeuchi, Kenjiro Kosaki, Keiji Moriyama   +5 more
wiley   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Breaking Barriers in Interdisciplinary Research: The Case for a Unified Approach in Sports Science and Public Health. [PDF]

Sports (Basel)
Lane AM, Kreider RB.
europepmc   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Manipulation of Intensive Longitudinal Data: A Tutorial in R With Applications on the Job Demand-Control Model. [PDF]

Int J Psychol
Menghini L, Perinelli E, Balducci C.
europepmc   +1 more source

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Correction: Siblings of Persons with Disabilities: A Systematic Integrative Review of the Empirical Literature. [PDF]

Clin Child Fam Psychol Rev
Levante A, Martis C, Del Prete CM, Martino P, Primiceri P, Lecciso F.   +5 more
europepmc   +1 more source

Pupillary responses to bright and dark stimuli in individuals with autism spectrum disorders. [PDF]

PLoS One
Hayakawa T, Nakano S, Inada N, Saneyoshi A, Tsujita M, Kumagaya S, Hara N.   +6 more
europepmc   +1 more source