Results 161 to 170 of about 1,141,330 (293)

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Bidirectional Relations Between Daily Perceived Stress and Individual Symptoms of Depression. [PDF]

Stress Health
Quinn ME, Liu Q.
europepmc   +1 more source

Long‐term neurological and psychiatric outcomes after paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis

Developmental Medicine &Child Neurology, EarlyView.
Arterial ischemic stroke (AIS) or cerebral sinovenous thrombosis (CSVT) is a rare but serious event in children and adolescents. A descriptive long‐term (median 16 years) follow‐up study of patients revealed an increased risk of neurological and psychiatric diagnoses after AIS or CSVT, highlighting significant morbidity compared with the general ...
Jeanette Soenderlyng Springer, Søren Paaske Johnsen, Charlotte Olesen, Jan Brink Valentin, Ruta Tuckuviene   +4 more
wiley   +1 more source

Understanding the challenges: preterm birth and middle childhood psychomotor skills - a case control study. [PDF]

BMC Pediatr
Kozakiewicz M, Ewertowska P, Perzanowska E, Wilczyńska D, Walczak-Kozłowska T, Orlikowska A, Markowicz M, Zajt J, Kaczor J.   +8 more
europepmc   +1 more source

Dialectical Behavior Therapy and Cognitive Behavior Therapy in Individuals With Binge‐Eating Disorder: What Works for Whom?

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective To evaluate moderators and predictors of response to cognitive behavioral therapy (CBT) and dialectical behavior therapy (DBT) for binge‐eating disorder (BED). Method Moderators/predictors of treatment outcome, central to CBT and to DBT treatment, were chosen from an aggregated dataset of two clinical outcome studies with non‐random ...
Mirjam W. Lammers, Maartje S. Vroling, Ross D. Crosby, Suzanne H. W. Mares, Giel J. M. Hutschemaekers, Tatjana Van Strien   +5 more
wiley   +1 more source

Evaluating the effectiveness of disaster nursing programs based on Bloom's taxonomy: a meta-analysis. [PDF]

BMC Nurs
Lee SJ, Kim KJ.
europepmc   +1 more source

Assessment of intrathecal therapy in the treatment of familial haemophagocytic lymphohistiocytosis

British Journal of Haematology, EarlyView.
Katarina Zivkovic, Elisabet Bergsten, Maurizio Aricó, Itziar Astigarraga, Eiichi Ishii, Stephan Ladisch, Kai Lehmberg, Milen Minkov, Vasanta Nanduri, Jan‐Inge Henter   +9 more
wiley   +1 more source

Exodontia Block Course Evaluation: A Review of the Learning Outcomes, Content, and Assessment Practices at a Dental Faculty in South Africa

European Journal of Dental Education, EarlyView.
ABSTRACT Introduction Regular curriculum renewal ensures relevant and responsive curricula. Skills development courses, such as for dental extraction procedures, require the same rigorous review, as this skill demands both technical proficiencies and a high level of cognition.
Nashreen Behardien, Priscilla Brijlal, Nicolette Vanessa Roman   +2 more
wiley   +1 more source

Impact of musical instrument practice on baseline psychomotor and technical skills in novice dental students: a prospective controlled study. [PDF]

BMC Med Educ
Clouet R, Gogendeau C, Tourtelier J, Gaudin A, Prud'homme T, Serisier S.   +5 more
europepmc   +1 more source