Results 51 to 60 of about 3,196 (199)
Angewandte Chemie, Volume 137, Issue 48, November 24, 2025.Wir präsentieren eine Nanodroplet‐Array‐Plattform, die die Integration von Festphasensynthese, MALDI‐MS‐Analyse und zellbasiertem Screening von 325 potenziellen MEK‐Inhibitoren (Mitogen‐aktivierte‐Proteinkinase‐Kinase) in Nanoliter‐Volumina ermöglicht.
Maximilian Seifermann +10 more
wiley +1 more source
Neurofibromatose tipo 1 - uma evolução maligna em idade pediátrica.
Acta Médica Portuguesa, 2010 Neurofibromatosis type 1 is an autosomal dominant disease affecting one in 3000 to one in 4000 people, with a great variability of clinical expression.
Sérgia Soares +4 more
doaj +1 more source
Feocromocitoma em crianças: relato de três casos [PDF]
, 2011 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Amorim, Hugo Jefter Mendes de
core
Mécanismes et conséquences des mutations [PDF]
, 2005 L’identification des mutations à l’origine de maladies génétiques chez l’homme a pris ces dernières années un essor considérable. Il est devenu possible d’établir le spectre des mutations délétères pour une maladie génétique donnée, et des bases de ...
Hanna, Nadine +3 more
core +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
Neurofibromatose tipo 1 em idade pediátrica: o que vigiar?
Acta Médica Portuguesa, 2008 Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss
Cristina L Martins +4 more
doaj +1 more source
Freak – Sensation – Star : zu Mythos, Determiniertheit und Aura des John Merrick in David Lynchs "The Elephant Man" [PDF]
, 2009 Joseph Carey Merrick alias John Merrick galt bereits im Viktorianischen Zeitalter als Musterbeispiel des gesellschaftlichen Außenseiters, doch selbst im Werk von David Lynch, wo die Darstellung des Freaks gleichsam zum inhaltlichen Filminventar gehört ...
Schäfer, Jerome Philipp
core
Diagnostic Importance of Cutaneous Manifestations of Neurofibromatosis—A Systematic Review
Neurology and Clinical Neuroscience, Volume 13, Issue 3, Page 165-173, May 2025.ABSTRACT A class of hereditary diseases known as neurofibromatoses results in tumor growth on tissue from nerves. The spinal cord, nerves, and brain are among the parts of the nervous framework where these tumors can form. Similar to other genetic disorders, neurofibromatosis discloses complicated phenotypes, exhibiting varying benign and malignant ...
Hina Aslam +11 more
wiley +1 more source
Desvios Axiais dos Membros Inferiores [PDF]
, 2009 As deformidades axiais dos membros inferiores constituem um dos principais motivos de consulta na área de Ortopedia Infantil. Esta situação deve-se, por um lado, ao facto de haver uma grande percentagem de crianças (cerca de 20%) que apresentam uma ...
Campagnolo, J, Cassiano Neves, M
core +2 more sources
An Unexplored Diversity for Adaptation of Germination to High Temperatures in Brassica Species
Evolutionary Applications, Volume 18, Issue 3, March 2025.ABSTRACT Elevated temperatures inhibit the germination of a concerning number of crop species. One strategy to mitigate the impact of warming temperatures is to identify and introgress adaptive genes into elite germplasm. Diversity must be sought in wild populations, coupled with an understanding of the complex pattern of adaptation across a broad ...
M. Tiret +10 more
wiley +1 more source