Zobrazeno 1 - 10
of 204
pro vyhledávání: '"I, Lerer"'
Autor:
Michael I. Lerer
Publikováno v:
IEEE Communications Magazine. 42:S4-7
This article reviews the activities of the Physical Link Layer (PLL) Working Group of the Optical Internetworking Forum (OIF). Since its formation the PLL Working Group has been the leader in the development of optical and electrical interfaces. The
Akademický článek
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Autor:
Y, Goldberg, I, Barnes-Kedar, I, Lerer, N, Halpern, M, Plesser, A, Hubert, L, Kadouri, H, Goldshmidt, I, Solar, H, Strul, G, Rosner, H N, Baris, T, Peretz, Z, Levi, R, Kariv
Publikováno v:
Clinical genetics. 87(6)
Diagnosis of Lynch syndrome (LS) may be complex. Knowledge of mutation spectrum and founder mutations in specific populations facilitates the diagnostic process. Aim of the study is to describe genetic features of LS in the Israeli population and rep
Autor:
Shai Izraeli, Arndt Borkhardt, Franziska Auer, O. Y. Weinstein, I. Lerer, M. Harit, Peter Husemann, Michael Gombert, Franz Rüschendorf, Sebastian Ginzel, Julia Hauer, Polina Stepensky, Michael Weintraub
Publikováno v:
Leukemia. 28(5)
A single-nucleotide polymorphism (SNP) in PAX5 leading to an amino-acid change in the octapeptide domain at position c.547G>A (p.Gly183Ser) has recently been described to confer an inherited susceptibility for childhood pre B-ALL.1 This susceptibilit
Autor:
T C, Falik-Zaccai, E, Shachak, D, Abeliovitch, I, Lerer, R, Shefer, R, Carmi, L, Ries, M, Friedman, M, Shohat, Z, Borochowitz
Publikováno v:
The Israel Medical Association journal : IMAJ. 2(8)
Achondroplasia is the most frequent form of disproportionate short stature, characterized by rhizomelic shortening of the limbs. This disorder is inherited as an autosomal dominant trait, although most of the cases are sporadic, a result of a de novo
Publikováno v:
Human mutation. 13(4)
A deletion mutation of 8.6Kb in the CFTR gene, spanning the exons 17a, 17b and 18 was identified in 4 homozygous unrelated Palestinian CF patients. The patients were of various ethnic subgroups including Muslims, Christians and Druze. The deletion br
Kniha
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Autor:
S. Klebe, A. Lossos, H. Azzedine, E. Mundwiller, V. Meiner, M. Gaussen, C. Marelli, M. Nawara, W. Carpentier, V. Meyer, A. Raststetter, E. Martin, L. Orlando, G. Gyapay, K. El-Hachimi, B. Zimmermann, I. Lerer, A. Brice, A. Durr, G. Stevanin
Publikováno v:
Basal Ganglia. 3:66
Autor:
J, Mitchell, A, Schinzel, S, Langlois, G, Gillessen-Kaesbach, S, Schuffenhauer, R, Michaelis, D, Abeliovich, I, Lerer, S, Christian, M, Guitart, D E, McFadden, W P, Robinson
Publikováno v:
American journal of medical genetics. 65(2)
Prader-Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11-q13 or maternal uniparental disomy (UPD) 15. Birth parameters and clinical presentation of 79 confirmed UPD cases and 43 deletion patients were compared in order t