Results 131 to 140 of about 733,507 (305)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Future scenarios for British biodiversity under climate and land-use change. [PDF]

Nat Commun
Cooke R, Burton VJ, Brown C, Harrower CA, White SM, Huntingford C, Dunford-Brown R, Fox R, Harrison PA, Hui C, Massimino D, Purvis A, Robinson EL, Rodger J, Isaac NJB, Bullock JM.   +15 more
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Laura Carter, Histories of Everyday Life. The Making of Popular Social History in Britain, 1918–1979. Oxford, Oxford University Press 2024

Historische Zeitschrift
Münch Ole
doaj   +1 more source

A Brief History of the Development of Radar in Great Britain up to 1945

Measurement + Control, 2002
Richard M Trim OBE
doaj   +1 more source

Efficacy and acceptability of bowel preparation strategies for inflammatory bowel disease colonoscopy: Systematic review and meta-analysis. [PDF]

Endosc Int Open
Nigam GB, Gordon M, Sinopoulou V, Tomar A, Din S, Vance M, Wilson A, East JE, British Society of Gastroenterology Colorectal IBD Surveillance Guideline Development Group .   +8 more
europepmc   +1 more source

THE EARLY HISTORY OF CLINICAL PATHOLOGY IN GREAT BRITAIN [PDF]

Medical History, 1959
openaire   +2 more sources

3. The Second Industrial Revolution

, 1958
There is abundant evidence for the opinion that after about 1850 the Industrial Revolution entered upon a new phase in its development. Inventions occurred at a more rapid pace than ever before in history.
Bloom, Robert L., Crapster, Basil L., Dunkelberger, Harold L., Glatfelter, Charles H., Mara, Richard T., Richardson, Norman E., Schubart, W. Richard   +6 more
core  

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source