Results 141 to 150 of about 67,545 (327)

"You are contagious": When talk of radiation fears overwrites the truth [PDF]

, 2012
Japanese media coverage since March 11th 2011 suggests that people from Fukushima Prefecture have faced discrimination based on people's fears of radiation, despite the fact that they pose no genuine threat.
Cantrell, Akiyo, Nilep, Chad
core  

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. [PDF]

, 1994
B Z Garty, Bella Eisenstein, J Sandbank, Sara Kaffe, Ron Dagan, Natan Gadoth   +5 more
openalex   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome [PDF]

, 1993
Susan Kenwrick, Margaret Leversha, Lesley Rooke, Thomas Hasler, P. Sonderegger   +4 more
openalex   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Persisting Motor Function Problems in Children With Oesophageal Atresia Associated With Surgical Approach and Sports

Acta Paediatrica, EarlyView.
ABSTRACT Aim Children born with oesophageal atresia are at risk for impaired motor function, yet longitudinal data are lacking. This study aimed to assess overall motor functioning, motor domains and potential predictors at school age over time. Methods A prospective observational cohort study conducted within a tertiary university hospital's follow‐up
Anne‐Fleur R. L. van Hal, Sophie de Munck, Tabitha P. L. Zanen – van den Adel, Joost van Rosmalen, Saskia J. Gischler, Hanneke IJsselstijn, John Vlot, Leontien C. C. Toussaint‐Duyster   +7 more
wiley   +1 more source

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? [PDF]

, 1991
Ingrid Winship, Denis Viljoen, P M Leary, M M De Moor   +3 more
openalex   +1 more source

Internationally Adopted and Migrant Children Had Important Health Issues Requiring Systematic Initial Screening at Arrival

Acta Paediatrica, EarlyView.
ABSTRACT Aim Internationally adopted and migrant children have similar profiles as they may have experienced many adversities before arrival in their new country. We sought to compare both groups at arrival, focusing on nutritional status, infections and vaccination status.
Céline Lafay, Laurie Miller, Juliette Goutines, Enora Leroux, Albert Faye, Frédéric Sorge   +5 more
wiley   +1 more source

A CASE OF MICROCEPHALY FOLLOWING EMBRYONIC ROENTGEN IRRADIATION

, 1930
Edgar A. Doll, Douglas P. Murphy
openalex   +1 more source

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

Clinical Genetics, EarlyView.
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