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18 résultats avec le mot-clé: 'novel missense mutations best associated bestrophinopathies lebanese patients'

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

Homozygous mutations were associated with multifocal lesions, subretinal fluid, and intraretinal cysts, whereas compound heterozygous ones were responsible for a single

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2021
Four disulfide-bridged scorpion beta neurotoxin CssII: heterologous expression and proper folding in vitro.

Four disulfide-bridged scorpion beta neurotoxin CssII: heterologous expression and proper folding in vitro.. Georgina Estrada, Blanca Garcia, Emanuele Schiavon, Ernesto Ortiz,

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense

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ANNEXE 2 : MÉTHODES D’ÉVALUATION DES ÉLÉMENTS DE QUALITÉ BIOLOGIQUE (MENTIONNÉES DANS LE CHAPITRE 4 « OBJECTIFS ENVIRONNEMENTAUX »).

2004 et employée en 2004 était une méthode métrique basée sur 4 indices (l’Indice Biologique Diatomées IBD, l’Indice de Polluo-Sensibilité IPS, le TrophicDiatom Index TDI

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View of FOUNDATIONS OF EDUCATION IN AMERICA - AN, ANTHOLOGY OF MAJOR THOUGHTS AND SIGNIFICANT ACTIONS (Authors: James Wm. Noll and Sam P. Kelly)

The content of teacher education remained basically academic rather than functional; textbooks were outdated, even ancient, and entirely unrelated to the country's

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2021
Modeling of Complex Systems Through in SysML in Italian Navy (ITN)

The model adopted, that has been borrowed from the NAF (Nato Architectural Framework) and derived by the MDAF (Italian Ministry of Defence Architectural Framework), is

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Theme of the10

Develop lasting ties between SSE and cities, territories, the commons, new forms of economy and of entrepreneurship modes: ESS helps develop more humane combinations: cities

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2048-pixel CCD Linear Image Sensor (B/W)

c) Be aware that any of the following can cause the glass to crack because the upper and lower ceramic layers are shielded by low-melting glass:. (1) Applying repetitive

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The Long Term Stabilization of Uranium Mill Tailings | IAEA

The largest single incentive for research was related to passage of the Uranium Mill Tailings Radiation Control Act 1978 (USA), under which the US Environmental Protection

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2022
Adoptive transfer with high-affinity TCR to treat human solid tumors: how to improve the feasibility?

T able 1 Advantages and drawbacks of the various ACT strategies ACT strategy Production method Clinical responses Advantages Drawbacks Improvements Ref Non selected melanoma TIL

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EXTRAIT DES REGISTRES DES DELIBERATIONS DU BUREAU DE LA METROPOLE D'AIX- MARSEILLE-PROVENCE-METROPOLE

Signé le 19 Septembre 2016 Reçu au Contrôle de légalité le 13 Octobre 2016 La Métropole d’Aix-Marseille-Provence a conclu avec la Société SITA SUD SAS, devenue SUEZ RV

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An infinite dimensional Duffing-like evolution equation with linear dissipation and an asymptotically small source term

We show that, if the external force is asymptotically small enough, then every solution lies for t large in a neighborhood of one of the three stationary solutions to the

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Anthropologies numériques 2016

Filmmakers, artists, IT engineers and researchers develop methods of learning on complex situations and urge, through their work, to build new relationships with their

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Towards semantic interoperability standards based on ontologies

● The quality of an interoperability specification is improved as a systematic process is applied for defining interoperability. ● The resulting specifications can be used as

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So 314

The perspective stuelies component of the resolution 463(XVIII)'hy which the rCA ~ccretariat was requesterl hy the FCA Conference of Ministers that ,met in Adcl~s Ababa in 1983,

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Analysis of a Sugimoto's model of nonlinear acoustics in an array of Helmholtz resonators

In the case of small data, global smooth solutions are expected: the Sugimoto’s model has been defined to prevent from the occurence of shocks and to propagate acoustic solitons

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Etude des pluies acides à Schefferville, N.Q. et de la possibilité de leur association à un transport atmosphérique de polluants sur de longues distances

tains de ceux-ci ayant une influence plus ou moins marquée sur la formation de pluies acides.. composantes acidiques) et 1 •• oxydes d'azote (regroupant

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