Results 211 to 220 of about 449,598 (294)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Multi-label mental health classification in social media posts with multi-perspective prompt ensemble and auxiliary self-supervision. [PDF]

Sci Rep
Hsieh CY, Ye QY, Liu FC, Wang X, Lee CH, Lin CS.   +5 more
europepmc   +1 more source

Examining the use of psychological skills throughout soccer performance [PDF]

, 2010
Greenlees, I., Thelwell, Richard, Weston, Neil   +2 more
core  

Personal Qualities of Effective Sport Psychologists: Coping with Organisational Demands in High Performance Sport.

The purpose of the current study was to explore colleagues’ perspectives of the personal qualities of effective sport psychologists and how these qualities enable practitioners to address the organisational demands they face within their work. Semi-structured interviews were conducted with sport physicians (N = 6) and coaches (N = 7).
Chandler, C, Eubank, MR, Nesti, MS, Tod, D   +3 more
openaire  

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Episodic Memory, Chiari I Malformation, Personality and Coping: The Role of Chronic Pain. [PDF]

Behav Sci (Basel)
Allen PA, Kaut KP, Houston JR, Houston ML, Rabinowitz EP, Delahanty DL, Klinge PM.   +6 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Exploring Predictors of Counselors' Acceptance of Virtual Reality Exposure Therapy With Resistance and Job Contexts as Moderators: Cross-Sectional Mixed Methods Study.

J Med Internet Res
Kim M, Jeon M, Lee Y, Lee S, Kim H, Jung D.   +5 more
europepmc   +1 more source

A Neuropsychological Perspective on ADHD: Quantitative Insights into Working Memory Components. [PDF]

Ann Neurosci
Malhotra P, Khurana R.
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source