Results 241 to 250 of about 1,876,979 (380)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Editorial: Prehospital emergency medicine: challenges and opportunities

Frontiers in Medicine
Sebastian Schnaubelt, Sebastian Schnaubelt, Sebastian Schnaubelt, Enrico Baldi, Enrico Baldi, Mario Krammel, Patrick Sulzgruber, Patrick Sulzgruber   +7 more
doaj   +1 more source

Association between direct transport to a cardiac arrest centre and survival following out-of-hospital cardiac arrest: A propensity-matched Aotearoa New Zealand study

Resuscitation Plus
Background and Objectives: Direct transport to a cardiac arrest centre following out-of-hospital cardiac arrest may be associated with higher survival. However, there is limited evidence available to support this within the New Zealand context.
Bridget Dicker, Nick Garrett, Graham Howie, Aroha Brett, Tony Scott, Ralph Stewart, Gavin D. Perkins, Tony Smith, Elena Garcia, Verity F. Todd   +9 more
doaj  

Sex differences in out-of-hospital cardiac arrest. [PDF]

Eur Heart J Open
Zylyftari N, Wissenberg M, Gnesin F, Møller AL, Anna Mills EH, Møller SG, Jensen B, Ringgren KB, Tan HL, Folke F, Gislason G, Pedersen CT, Lee CJ.   +12 more
europepmc   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Cardiac arrest and bone cement. [PDF]

, 1970
Jessica Hyland, R. H. Robins
openalex   +3 more sources

INTRACARDIAC EPINEPHRINE versus ISOPROTERENOL IN CARDIAC ARREST

, 1967
William Warner
openalex   +1 more source

Cardiac Arrest [PDF]

, 1967
C M Oakley
openalex   +1 more source

CARDIAC ARREST

Annals of Surgery, 1930
openaire   +3 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source