Results 71 to 80 of about 13,573 (219)

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

Duane Retraction Syndrome and Accompanying Ocular Abnormalities

Beyoglu Eye Journal, 2019
INTRODUCTION[|]Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot ...
Murat Kocamaz, Ebru Demet Aygıt, Aslı İnal, Osman Bulut Ocak, Uğur Çiçek, Birsen Gokyigit   +5 more
doaj   +1 more source

Immunogenicity and safety of three consecutive production lots of the non replicating smallpox vaccine MVA: A randomised, double blind, placebo controlled phase III trial [PDF]

, 2018
BackgroundModified Vaccinia Ankara (MVA) is a live, viral vaccine under advanced development as a non-replicating smallpox vaccine. A randomised, double-blind, placebo-controlled phase III clinical trial was conducted to demonstrate the humoral ...
Chaplin, Paul, De Carli, Sonja, Kreusel, Christian, Lawrence, Steven J, Meyer, Thomas P, Nopora, Katrin, Overton, Edgar Turner, Rosch, Siegfried, Samy, Nathaly, Schnidt, Darja, Wagner, Eva, Weidenthaler, Heinz, Young, Philip   +12 more
core   +3 more sources

Multi‐Species Plant Invasions in Temperate Successional Grasslands Drive Changes in Community Functional Composition

Journal of Vegetation Science, Volume 36, Issue 4, July/August 2025.
We examine how multi‐species plant invasions shape temperate grassland function in New Zealand. Non‐native species richness is positively associated with the most abundant non‐native species cover, both contributing to higher total non‐native cover. This correlates with community‐weighted traits linked to rapid resource capture and nutrient cycling ...
Insu Jo, Kara Allen, Peter J. Bellingham, Duane A. Peltzer, Laureline Rossignaud, Angela J. Brandt   +5 more
wiley   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Diagnose und Therapie okulomotorischer Defizite bei Patienten mit Möbius-Sequenz [PDF]

, 2018
Zusammenfassung: Der Artikel gibt einen Überblick über das Spektrum möglicher Motilitätseinschränkungen und Stellungsanomalien der Augen bei Patienten mit Möbius-Sequenz.
Landau, K., Menke, M.N., Michels, R., Sturm, V.   +3 more
core  

Thalidomide-induced Teratogenesis : History and Mechanisms [PDF]

, 2015
Peer reviewedPublisher ...
Arlen RR, Hamanishi C, Jonsson NA, Lenz W, Lenz W, Livingstone G, McBride W, Ng SS, Packard DS, Ruffing L, Schmidt M, Smith RL, Soules BJ, UK Government Report   +13 more
core   +1 more source

Drug Discovery Approaches to Target E3 Ligases

ChemBioChem, Volume 26, Issue 1, January 2, 2025.
Comprehensive review presenting the different drug discovery approaches that until now have been employed in academic and pharmaceutical settings to identify new E3 ligase small molecules ligands and contributing to the expansion of the targeted protein degradation field. Abstract Targeting E3 ligases is a challenging area in drug discovery.
Alejandra Rodríguez‐Gimeno, Carles Galdeano   +1 more
wiley   +1 more source

MRI with fibre tracking in Cogan congenital oculomotor apraxia [PDF]

, 2018
Background: Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the ‘molar tooth sign' (MTS).
De Haller, Raoul, Fluss, Joel, Merlini, Laura, Rilliet, Bénédict, Vargas, Maria   +4 more
core  

Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia

Journal of Anatomy, Volume 245, Issue 2, Page 217-230, August 2024.
Type III collagen is abundant in the endo and perimysium of control patient muscle (A and E) but is downregulated in RD muscle (I and M). Abstract Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially ...
George R. F. Murphy, Eleanor Feneck, James Paget, Branavan Sivakumar, Gill Smith, Malcolm P. O. Logan   +5 more
wiley   +1 more source