Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Saly, Usher"'
Autor:
Hen Hallevi, Jeremy Molad, Saly Usher, Natan M. Bornstein, Einor Ben Assayag, Shani Shenhar-Tsarfaty, Estelle Seyman, Oren Tene
Publikováno v:
Journal of Psychiatry & Neuroscience : JPN
Background: A naturally occurring loss-of-function mutation in the gene for C-C chemokine receptor type 5 (CCR5-Δ32) has recently been reported as a protective factor in post-stroke motor and cognitive recovery. We sought to examine whether this mut
Autor:
Ronit Mor-Cohen, Meytal Landau, Mammen Chandy, Alok Srivastava, Saly Usher, E. J. R. Nelson, Barry S. Coller, Sukesh C. Nair, Deborah L. French, Uri Seligsohn, Beau W. Mitchell, Hava Peretz, Nurit Rosenberg
Publikováno v:
Human Mutation. 27:359-369
The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. Of 23 identified mutations (13 in the αIIb (ITGA2B) gene and 10 in the β3 (ITGB3) gene), 20 were novel and three were described previously. Three m
Autor:
Rafael Luboshitsky, Elisheva Grynberg, Emanuel Yakobson, Ela Baron, Ruth Gershoni, Mordechai Lapidot, Amnon Biton, Saly Usher, Hava Peretz, E Graff
Publikováno v:
Human Mutation. 10:155-159
The multiple endocrine neoplasia type 2 (MEN2) syndromes and Hirschsprung's disease (HSCR) are inherited neurocristopathies characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid disease, and gastrointestinal neuromatosis.
Autor:
Uri Seligsohn, M. Zucker, Hava Peretz, R. Mor-cohen, Saly Usher, Ophira Salomon, Ariella Zivelin
Publikováno v:
Journal of thrombosis and haemostasis : JTH. 11(4)
Summary. Background: Factor XI (FXI) deficiency is oneof the most frequent inherited disorders in AshkenaziJews (AJ). Two predominant founder mutations termedtype II (p.Glu117Stop) and type III (p.Phe283Leu)account for most cases. Objectives: To pre
Autor:
Alok, Srivastava, Saly, Usher, Everette J R, Nelson, G, Jayandharan, Ramachandran V, Shaji, Mammen, Chandy, Uri, Seligsohn, Hava, Peretz
Publikováno v:
The National medical journal of India. 16(4)
Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet function, which results in major morbidity due to persistent, spontaneous, mucocutaneous bleeding and menorrhagia in women. Platelet transfusions are often needed to control
Publikováno v:
Human Mutation. 8:77-78