Results 31 to 40 of about 981 (122)

Pyridoxine dependent epilepsies: new therapeutical point of view [PDF]

, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Falsaperla R, Raffaele Falsaperla, Corsello G, Giovanni Corsello   +3 more
core   +1 more source

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

Developmental Dynamics, Volume 255, Issue 4, Page 403-416, April 2026.
Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez, Niusha Banoukh, Fiona Mensching, Robert V. Skibbens, M. Kathryn Iovine   +4 more
wiley   +1 more source

Enhancing senior high school student engagement and academic performance using an inclusive and scalable inquiry-based program [PDF]

, 2020
The multi-disciplinary nature of science, technology, engineering, and math (STEM) careers often renders difficulty for high school students navigating from classroom knowledge to post-secondary pursuits.
Callaghan, Neal I, Shukalyuk, Andrey I, Kilkenny, Dawn M, Davenport Huyer, Locke, Scherer, Edward, Dicks, Sara, Jou, Margaret, Locke Davenport Huyer, Sara Dicks, Edward Scherer, Margaret Jou, Dawn M. Kilkenny, Neal I. Callaghan, Andrey I. Shukalyuk   +13 more
core   +1 more source

The Relationships Among Fear of Missing Out, Problematic Social Media Use, Alexithymia, and Psychiatric Symptoms in Adolescents Attending Psychiatric Outpatient Clinics

Perspectives in Psychiatric Care, Volume 2026, Issue 1, 2026.
Purpose As social media use continues to increase, particularly among adolescents, understanding its impact on mental health is becoming increasingly urgent. This study explored the relationships between alexithymia, fear of missing out (FoMO), excessive social media use, and psychiatric symptoms in a clinical adolescent sample, hypothesizing that ...
Nihal Serdengeçti, Aslı Begüm Can Aydın, Mesut Yavuz, Francisco Sampaio   +3 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Graduate Student Pedagogical Impact Through Development and Delivery of a Collaborative Inquiry-focused High School STEM Program [PDF]

, 2020
© 2020 American Society for Engineering EducationConsidering a changing academic landscape that desires skill development beyond that of traditional research, post-secondary STEM students now require broad opportunities to improve their translatable ...
Davenport Huyer, Locke, Callaghan, Neal I., Kilkenny, Dawn M., Dawn Kilkenny, Locke Davenport Huyer, Neal Callaghan   +5 more
core   +1 more source

Gymnasialdirektor Dr. Georg Lukas : ein Nachruf meinem ehemaligen Lehrer, Direktor und Amtsvorgänger gewidmet

, 1911
von Dr.
Prosch, Franz
core   +1 more source

Mouse models for inherited monoamine neurotransmitter disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 3, Page 533-550, May 2024.
Abstract Several mouse models have been developed to study human defects of primary and secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to expand, current defects in corresponding mouse models include enzymes and a molecular co‐chaperone involved in monoamine synthesis and metabolism (PAH, TH, PITX3, AADC, DBH ...
Beat Thöny, Joanne Ng, Manju A. Kurian, Philippa Mills, Aurora Martinez   +4 more
wiley   +1 more source

Comparison of candidate gene expression levels in myocardial tissue of mice with and without sickle cell disease.

, 2016
A: Adam9, B: Fuca2, C: Il18, D: Olfr658, E: Prosc, F: Slc16a2, G: Sult2b1. Error bars denote standard error of the mean. * ≤ 0.05; † ≤ 0.001.
Roberto M. Lang (3124212), Ankit A. Desai (439405), Justin R. Sysol (3124200), Akash Gupta (1341285), Joe G. N. Garcia (118950), Taimur Abbasi (3124209), Julio D. Duarte (3124203), Amit R. Patel (3124206), Victor R. Gordeuk (153665), Roberto F. Machado (136200)   +9 more
core   +1 more source

Jahresbericht über das K.K. Staatsgymnasium in Weidenau / Dokumente zur Geschichte der Anstalt nebst Erläuterungen

, 2014
von Dr.
Prosch, Franz
core   +1 more source