Results 221 to 230 of about 2,214,382 (367)

A Fatal Congenital Defect Associated with a Unique Chromosome Abnormality [PDF]

, 1966
A. D. Bain, I. K. Gauld
openalex   +1 more source

Alterations to the remote control of Shh gene expression cause congenital abnormalities

Philosophical Transactions of the Royal Society B: Biological Sciences, 2013
R. Hill, L. Lettice
semanticscholar   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Congenital Abnormalities Causing Hematocolpos: A Pictorial Essay. [PDF]

J Belg Soc Radiol
Dorthu L, Danthine D.
europepmc   +1 more source

A Case of the Bilateral Congenital Dislocation of the Hips with the Abnormal Ossification

, 1956
F. Narahara
openalex   +2 more sources

Congenital abnormalities of the conduction system in two patients with tachyarrhythmias. [PDF]

, 1979
S Bharati, Robert Bauernfiend, Melvin M. Scheinman, B.M. Massie, M.D. Cheitlin, P Denes, D Wu, Maurice Lev, K M Rosen   +8 more
openalex   +1 more source

Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2014
A. Khalil, Natalie Suff, B. Thilaganathan, A. Hurrell, D. Cooper, J. S. Carvalho   +5 more
semanticscholar   +1 more source

Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study

Annals of Neurology, EarlyView.
Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu, Christian G. Bénar, Samuel Medina Villalon, Lison Ciavatti, Fantine Mazel, Fabrice Bartolomei, Agnès Trébuchon   +6 more
wiley   +1 more source

Capacidad antiteratogénica del resveratrol en diabetes inducida por estreptozotocina en ratas

Revista Peruana de Medicina Experimental y Salud Pública
Objetivos. Evaluar la capacidad antihiperglucémica y antiteratogénica del resveratrol en ratas inducidas a diabetes por estreptozotocina. Materiales y métodos. Estudio de tipo experimental. Se tuvieron tres grupos, de cinco ratas Wistar preñadas cada uno,
Ninna Leslie Trejo-González, Gladys Chirino-Galindo, Martín Palomar-Morales   +2 more
doaj  

Parachute-Like Mitral Valve and Associated Congenital Abnormalities Diagnosed With Multimodality Imaging. [PDF]

CASE (Phila)
Chen Y, Nagpal P, Hillerson DB.
europepmc   +1 more source