نتایج جستجو برای: zellweger syndrome

تعداد نتایج: 622015  

1999
Zoltán Haiman

The redshift at which the universe was reionized is currently unknown. We examine the optimal strategy for extracting this redshift, zreion, from the spectra of early sources. For a source located at a redshift zs beyond but close to reionization, (1 + zreion) < (1 + zs) < 32 27 (1 + zreion), the Gunn–Peterson trough splits into disjoint Lyman α, β, and possibly higher Lyman series troughs, wit...

2009
Y. H. Zhang M. Hasegawa W. T. Guo M. L. Liu X. H. Zhou G. de Angelis T. M. Axiotis A. Gadea N. Marginean D. R. Napoli C. Rusu Zs. Podolyak C. Ur D. Bazzacco F. Brandolini S. Lunardi S. M. Lenzi R. Menegazzo R. Schwengner A. Gargano W. von Oertzen S. Tazaki

Y. H. Zhang,1 M. Hasegawa,1 W. T. Guo,1 M. L. Liu,1 X. H. Zhou,1 G. de Angelis,2,3 T. M. Axiotis,2 A. Gadea,2 N. Marginean,2 Martinez,2 D. R. Napoli,2 C. Rusu,2 Zs. Podolyak,4 C. Ur,5 D. Bazzacco,5 F. Brandolini,5 S. Lunardi,5 S. M. Lenzi,5 R. Menegazzo,5 R. Schwengner,6 A. Gargano,7 W. von Oertzen,3,8 and S. Tazaki9 1Institute of Modern Physics, Chinese Academy of Sciences, Lanzhou, China 2Ist...

Journal: :FEBS letters 1997
Z Tokaji A Dér L Keszthelyi

The photocycle of the acid-purple form of bacteriorhodopsin (BR) was studied by multiwavelength absorption kinetic measurements. The data were evaluated using a new method based on the differences in the kinetics of the absorption changes at different wavelengths [Tokaji, Zs. (1995) FEBS Lett. 357, 156-160]. The evaluation indicates that, in contrast to the previous suggestion, the photocycle o...

2004
Aneta Dudek A. Paweł Wojda

By Pm we denote a path of order m. A graph G is said to be Pm − saturated if G has no subgraph isomorphic to Pm and adding any new edge to G creates a Pm in G. In 1986 L. Kászonyi and Zs. Tuza considered the following problem: for given m and n find the minimum size sat(n;Pm) of Pm-saturated graph and characterize the graphs of Sat(n; Pm) – the set of Pm-saturated graphs of minimum size. They h...

Journal: :American journal of human genetics 2015
Ilham Ratbi Kim D Falkenberg Manou Sommen Nada Al-Sheqaih Soukaina Guaoua Geert Vandeweyer Jill E Urquhart Kate E Chandler Simon G Williams Neil A Roberts Mustapha El Alloussi Graeme C Black Sacha Ferdinandusse Hind Ramdi Audrey Heimler Alan Fryer Sally-Ann Lynch Nicola Cooper Kai Ren Ong Claire E L Smith Christopher F Inglehearn Alan J Mighell Claire Elcock James A Poulter Marc Tischkowitz Sally J Davies Abdelaziz Sefiani Aleksandr A Mironov William G Newman Hans R Waterham Guy Van Camp

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them. Loss-of-function mutations in both genes ...

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