Results 51 to 60 of about 44,175 (160)

UEG Week 2023 Poster Presentations

, 2023
United European Gastroenterology Journal, Volume 11, Issue S8, Page 535-1498, October 2023.
wiley   +1 more source

Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres

Pediatric Obesity, Volume 19, Issue 12, December 2024.
Summary Background The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real‐life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity.
Anita Morandi, Elena Fornari, Massimiliano Corradi, Giuseppina Rosaria Umano, Francesca Olivieri, Claudia Piona, Alice Maguolo, Carola Panzeri, Federica Emiliani, Grazia Cirillo, Paolo Cavarzere, Emanuele Miraglia Del Giudice, Claudio Maffeis   +12 more
wiley   +1 more source

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Journal of Medical Genetics, 2019
Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdeletion ...
A. Jønch, E. Douard, C. Moreau, Anke Van Dijck, M. Passeggeri, F. Kooy, J. Puechberty, Carolyn Campbell, D. Sanlaville, Henrietta Lefroy, S. Richetin, A. Pain, D. Geneviève, U. Kini, C. Le Caignec, J. Lespinasse, A. Skytte, B. Isidor, C. Zweier, J. Caberg, M. Delrue, R. Møller, A. Bojesen, H. Hjalgrim, C. Brasch-Andersen, E. Lemyre, L. Ousager, S. Jacquemont   +27 more
semanticscholar   +1 more source

Bir İntihal Örneği Olarak Hafız Yahya Hilmi Kastamonî’nin Misbâhu’l-İhvân li Taharrî Âyâti’l-Kur’ân Adlı Eseri

Cumhuriyet İlahiyat Dergisi, 2017
Öz: Fihristler, Kur'an araştırmalarında önemli kaynaklar arasında yer almaktadır. Kur'an'a ait bir kelimenin hangi âyetlerde ve ne şekilde geçtiğini kolayca bulabilmek ancak bu türden eserlerle mümkün olabilmektedir.
İskender Şahi̇n
doaj   +1 more source

eIF4A inhibition circumvents uncontrolled DNA replication mediated by 4E-BP1 loss in pancreatic cancer.

JCI Insight, 2019
Pancreatic ductal adenocarcinoma (PDAC) relies on hyperactivated protein synthesis. Consistently, human and mouse PDAC lose expression of the translational repressor and mTOR target 4E-BP1.
D. Müller, Sauyeun Shin, T. Goullet de Rugy, R. Samain, R. Baer, Manon Strehaiano, Laia Masvidal-Sanz, J. Guillermet‐Guibert, C. Jean, Yoshinori Tsukumo, N. Sonenberg, Frédéric Marion, N. Guilbaud, J. Hoffmann, O. Larsson, C. Bousquet, S. Pyronnet, Y. Martineau   +17 more
semanticscholar   +1 more source

Understanding exosomes: Part 2—Emerging leaders in regenerative medicine

Periodontology 2000, Volume 94, Issue 1, Page 257-414, February 2024.
Abstract Exosomes are the smallest subset of extracellular signaling vesicles secreted by most cells with the ability to communicate with other tissues and cell types over long distances. Their use in regenerative medicine has gained tremendous momentum recently due to their ability to be utilized as therapeutic options for a wide array of diseases ...
Richard J. Miron, Nathan E. Estrin, Anton Sculean, Yufeng Zhang   +3 more
wiley   +1 more source

İslam Bilim Tarihi’nde İlk Tercüme Faaliyetleri ve Bilgi Üretimine Katkısı

Cumhuriyet İlahiyat Dergisi, 2017
Öz: Ekonomik ilişkiler ve fetihler sonucu çok geniş bir coğrafyaya yayılan ve bunun bir sonucu olarak da birçok farklı kültürle karşılaşan Müslümanlar, özellikle Bizans (Helen/Yunan), İran ve kısmen Hint kültürleriyle temasları sonucunda bu kültürlere ...
Mustafa Barış
doaj   +1 more source

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

International Journal of Molecular Sciences, 2019
To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals inheriting the deletion, we collected 71 individuals reported with phenotypic data and known ...
K. W. Davis, Moises A. Serrano, S. Loddo, Catherine Robinson, V. Alesi, B. Dallapiccola, A. Novelli, M. Butler   +7 more
semanticscholar   +1 more source

Polymetamorphism during the Grenvillian Orogeny in SE Ontario: Results from trace element mapping, in situ geochronology, and diffusion geospeedometry

Journal of Metamorphic Geology, Volume 42, Issue 1, Page 35-61, January 2024.
Abstract The Flinton Group is a metasedimentary succession of the Grenville Province in SE Ontario, potentially allowing insight into the tectono‐thermal evolution of continental crust during the Mesoproterozoic. At its Green Bay locality, Flinton Group metapelites of the staurolite zone contain abundant, post‐kinematic garnet porphyroblasts.
F. Gaidies, T. Mccarron, A. D. Simpson, R. M. Easton, S. Glorie, B. Putlitz, K. Trebus   +6 more
wiley   +1 more source

Hendek, Abdurrahman. Türkiye ve İngiltere Din Eğitimi Politikalarının Karşılaştırılması. Doktora Tezi, Oxford Üniversitesi Sosyal Bilimler Enstitüsü, İngiltere 2018

Cumhuriyet İlahiyat Dergisi, 2018
Eğitim politikalarının çeşitli ulusal ve uluslarüstü faktörlere bağlı olarak sorgulandığı, eleştirildiği ve yeniden biçimlendirildiği uzun zamandır kabul edilmektedir.
Abdurrahman Hendek
doaj