Results 91 to 100 of about 1,912 (211)

Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A [PDF]

open access: yes, 2016
Epub 2016 Nov 5Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles.
Arai, Shinpei   +6 more
core   +1 more source

Poster Sessions

open access: yes
HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

EVALUACI 3N DEL EFECTO TRIPANOCIDA DEL VENENO DE CASCABEL (CROTALUS DURISSUS CUMANENSIS Y C. VEGANDRIS) SOBRE EL TRYPANOSOMA CRUZI EN CULTIVOS IN VITRO (MEDIO LIT) [PDF]

open access: yes
El inter\ue9s de realizar dicha investigaci\uf3n parte de lograr un m\ue9todo efectivo para disminuir la reproducci\uf3n del T. cruzi, el cual fue descubierto por el Dr. Carlos Chagas en el a\uf1o 1909.
Mogoll\uf3n Saldivia, Alexander A.
core  

Splicing mutations: making sense with antisense therapy [PDF]

open access: yes, 2012
Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2012Galactose-1-phosphate uridylyltransferase (GALT) transfers a UMP group from UDP-glucose to Gal1P in the second step of the Leloir pathway for ...
Lourenço, Sílvia Pires, 1990-
core  

Publication Only

open access: yes
HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

open access: yesThe Indian Anaesthetists' Forum, 2015
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj  

Glanzmann′s thrombasthenia: A case report and review

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2011
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar   +2 more
doaj   +1 more source

Transfusion massive et coagulopathie-: physiopathologie et implications cliniques [PDF]

open access: yes, 2018
Purpose: To review the pathophysiology of coagulopathy in massively transfused, adult and previously hemostatically competent patients in both elective surgical and trauma settings, and to recommend the most appropriate treatment strategies.
Hardy, Jean-François   +2 more
core  

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