نتایج جستجو برای: رویکرد 4p

تعداد نتایج: 46081  

Journal: :Epilepsia 2014
Marcella Zollino Daniela Orteschi Mariken Ruiter Rolph Pfundt Katharina Steindl Concetta Cafiero Stefania Ricciardi Ilaria Contaldo Daniela Chieffo Domiziana Ranalli Celeste Acquafondata Marina Murdolo Giuseppe Marangi Alessia Asaro Domenica Battaglia

OBJECTIVE Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficienc...

Journal: :Networks 2004
Min Xu Xinmin Hou Jun-Ming Xu

Let G be a connected graph of order n. A routing in G is a set of n(n 1) fixed paths for all ordered pairs of vertices of G. The edge-forwarding index of G, (G), is the minimum of the maximum number of paths specified by a routing passing through any edge ofG taken over all routings in G, and ,n is the minimum of (G) taken over all graphs of order nwith maximum degree at most . To determine n 2...

Journal: :Molecular microbiology 2002
E Lenssen U Oberholzer J Labarre C De Virgilio M A Collart

The Ccr4-Not complex is a global regulator of transcription that affects genes positively and negatively and is thought to modulate the activity of TFIID. In the present work, we provide evidence that the Ccr4-Not complex may contribute to transcriptional regulation by the Ras/cAMP pathway. Several observations support this model. First, Msn2/4p-dependent transcription, which is known to be und...

2006
G. O’Sullivan A. Cummings A. Aguilar J. D. Gillaspy J. M. Pomeroy H. J. Byrne K Fahy E Sokell G O’ Sullivan A Cummings J. N. Tan

Laser-produced plasma source development for Extreme Ultra Violet (EUV) lithography has concentrated on xenon, since XeXI emits at 13.5 nm, the wavelength at which the reflectivity of MoSi mirrors is centred. However it is not obvious that the required conversion efficiencies can be achieved using xenon, and tin has been identified as a strong emitter at this wavelength. The transitions respons...

2013
Carlos A. Venegas-Vega Fernando Fernández-Ramírez Luis M. Zepeda Karem Nieto-Martínez Laura Gómez-Laguna Luz M. Garduño-Zarazúa Jaime Berumen Susana Kofman Alicia Cervantes

The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschh...

Journal: :The British journal of ophthalmology 1994
I Beiran J Pikkel M Gilboa B Miller

18 Schinzel A, D'Apuzzo V. Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(pl5.2;q I1.2). Ophthalmol Paediat Genet 1990; 11: 139-42. 19 Herva R, von Wendt L. De novo trisomy 4pter-.q21. Hum Genet 1978; 41: 225-30. 20 Wilson MG, Towner JW, Coffin GS, Forsman I. Inherited pericentric inversion ofchromosome No. 4.Amj Hum Genet 1970; 22: ...

Journal: :The Electronic Journal of Combinatorics 2009

2014
Tiago Marafiga Degrandi Sebastian Pita Yanina Panzera Edivaldo Herculano C. de Oliveira José Ribamar Felipe Marques Marivaldo Rodrigues Figueiró Larissa Coêlho Marques Lucia Vinadé Ricardo José Gunski Analía Del Valle Garnero

DOMESTIC BUFFALOES ARE DIVIDED INTO TWO GROUP BASED ON CYTOGENETIC CHARACTERISTICS AND HABITATS: the "river buffaloes" with 2n = 50 and the "swamp buffaloes", 2n = 48. Nevertheless, their hybrids are viable, fertile and identified by a 2n = 49. In order to have a better characterization of these different cytotypes of buffaloes, and considering that NOR-bearing chromosomes are involved in the r...

1998
M. Marinescu H. R. Sadeghpour

We address a growing interest in trapping and cooling of mixed-species alkali-metal atoms. Long-range coefficients that arise in the multipole expansion of molecular potentials for unlike alkali-metal dimers are calculated. The coefficients for the heteronuclear alkali-metal dimers corresponding to different molecular symmetries that separate to nS-n8S ,nS-n8P ,nS-n8D , and nP-n8P atomic levels...

2012
E Allaria A Battistoni F Bencivenga R Borghes C Callegari F Capotondi D Castronovo P Cinquegrana D Cocco M Coreno P Craievich R Cucini F D’Amico M B Danailov A Demidovich G De Ninno A Di Cicco S Di Fonzo M Di Fraia S Di Mitri B Diviacco W M Fawley E Ferrari A Filipponi L Froehlich A Gessini E Giangrisostomi L Giannessi D Giuressi C Grazioli R Gunnella R Ivanov B Mahieu N Mahne C Masciovecchio I P Nikolov G Passos E Pedersoli G Penco E Principi L Raimondi R Sergo P Sigalotti C Spezzani C Svetina M Trovò M Zangrando

FERMI@Elettra is a free electron-laser (FEL)-based user facility that, after two years of commissioning, started preliminary users’ dedicated runs in 2011. At variance with other FEL user facilities, FERMI@Elettra has been designed to deliver improved spectral stability and longitudinal coherence. The adopted scheme, which uses an external laser to initiate the FEL process, has been demonstrate...

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