نتایج جستجو برای: cornelia de lange

تعداد نتایج: 1533736  

2008
J. Avan

We construct operators t(z) in the elliptic algebra Aq,p(ŝl(2)c). They close an exchange algebra when pm = qc+2 for m ∈ Z. In addition they commute when p = q2k for k integer non-zero, and they belong to the center of Aq,p(ŝl(2)c) when k is odd. The Poisson structures obtained for t(z) in these classical limits are identical to the q-deformed Virasoro Poisson algebra, characterizing the exchang...

2015
R. M. Silva

a Universidade de São Paulo b Universidade de São Paulo Revista de Contabilidade e Organizações Renato Marques da Silvaa; Flavia Zoboli Dalmaciob

Journal: :Journal of medical genetics 1985
D Kumar C E Blank B L Griffiths

A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.

2015
Thelma Suely OKAY

The Revista do Instituto de Medicina Tropical de São Paulo has the honor to present this special issue of the year 2015 that is entirely dedicated to celebrate the centennial anniversary of Prof. Carlos da Silva Lacaz, founder of the Instituto de Medicina Tropical. Simultaneously to the creation of the Institute, the Revista do Instituto de Medicina Tropical de São Paulo also began to operate i...

Journal: :Journal of medical genetics 1976
G Carakushannsky C Berthier

A pair of female monozygotic twins, one of them affected by the de Lange syndrome is described for the first time. Monozygosity was established by most of the accepted standards in use at the present time. Speculation is offered as to whether the discordance in the manifestation of the syndrome provides any clues for understanding its controversial pathogenesis. In this regard two genetic mecha...

2011
Dragana M. Jović Yuri S. Kivshar Cornelia Denz Milivoj R. Belić

Dragana M. Jović,1,2 Yuri S. Kivshar,3 Cornelia Denz,4 and Milivoj R. Belić2 1Institute of Physics, P. O. Box 57, 11001 Belgrade, Serbia 2Texas A&M University at Qatar, P. O. Box 23874, Doha, Qatar 3Nonlinear Physics Center, Research School of Physics and Engineering, Australian National University, Canberra ACT 0200, Australia 4Institut für Angewandte Physik and Center for Nonlinear Science (C...

2003
M J K de Kleine

M J K de Kleine, A L den Ouden, L A A Kollée, M W G Nijhuis-van der Sanden, M Sondaar, B J M van Kessel-Feddema, S Knuijt, A L van Baar, A Ilsen, R Breur-Pieterse, J M Briët, R Brand, S P Verloove-Vanhorick . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...

2017
Elena Infante Gorka Alkorta-Aranburu Areeg El-Gharbawy

Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorp...

Journal: :Turkish Journal of Anesthesia and Reanimation 2013

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