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GJB2 gene mutations and genetic counseling in neurosensory non syndromic deafness


, : GJB2 gene mutations and genetic counseling in neurosensory non syndromic deafness. European Journal of Human Genetics 9(Supplement 1): P1471


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Shoi, M.G.Eenberg, G.Etche, D.J.Nes, F.An.E.Schen, R.Nd.J.C.Leman, J.H.J.A.Amczy, J.; Tong, X.A.L.U.M.Moudo, S.Tam, U., 2007: Survival of boll weevil (Coleoptera : Curculionidae) adults after feeding on pollens from various sources. The survival of overwintering boll weevil, Anthonomus grandis grandis (Boheman), adults on non-cotton hosts in the Lower Rio Grande Valley (LRGV) of Texas was examined from 2001 to 2006. The success of the Boll Weevil Eradication Program, which wa...

Sullivan, M.B.; Krastins, B.; Hughes, J.L.; Kelly, L.; Chase, M.; Sarracino, D.; Chisholm, S.W., 2010: The genome and structural proteome of an ocean siphovirus: a new window into the cyanobacterial 'mobilome'. Prochlorococcus, an abundant phototroph in the oceans, are infected by members of three families of viruses: myo-, podo- and siphoviruses. Genomes of myo- and podoviruses isolated on Prochlorococcus contain DNA replication machinery and virion str...

Cubillos, M., A.; Lissi, E., A.; Abuin, E., B., 2001: Kinetics of peroxidation of linoleic acid incorporated into DPPC vesicles initiated by the thermal decomposition of 2,2'-azobis(2-amidinopropane) dihydrochloride. In a previous work [Chem. Phys. Lipids 2000 104, 49], we have derived the following rate law for the oxidation of lipids in compartmentalized systems: R(T)=(k(1)/k(t))(0.5) k(p) [In](0.5) c(0.5) [LH], where, R(T) is the total rate of oxidation, k(...

Bolus, H.M.L., 1964: Notes on Mesembryanthemum and allied genera. The following new taxa are described: Sphalmanthus acocksii, S gydouwensis Conophytum, clavatum, C. meridianum pulverulentum Psilocaulon var. liebenbergii Drosanthemum nordenstanmii Trichodia- dema gracile vars. piliferum and setiferumj and T. con...

Pérez-Escuredo, J.; Van Hée, V.F.; Sboarina, M.; Falces, J.; Payen, Véry.L.; Pellerin, L.; Sonveaux, P., 2016: Monocarboxylate transporters in the brain and in cancer. Monocarboxylate transporters (MCTs) constitute a family of 14 members among which MCT1-4 facilitate the passive transport of monocarboxylates such as lactate, pyruvate and ketone bodies together with protons across cell membranes. Their anchorage...

Litsikas, M., 1991: Hospitals examine stockless options despite resistance. Hospital Material Dollar Sign Management 16(4): 2, 9-2,11

Cox, Carroll E., 1944: Collar rot on tomato in Maryland. Collar rot caused by Alter-naria solani was severe on tomato plants shipped into Maryland from the South in 1944. Lesions were not apparent when the plants arrived but within a few days the lesions developed.

Chan, K.L.; Chew, P.K.; Koh, T.S., 1971: Malaria outbreak at Pulau Tekong in Singapore. Malaria in Singapore since 1945 has been most common in Pulau Tekong, two islands to the east of the main island, and most of the cases are not infected locally but come from the nearby mainland of Malaysia. In early 1969, 6 cases of malaria were...

Cousin, I.; Comu, S.; Rose, J., 2005: Distribution of major and trace elements at the aggregate scale in a soil naturally rich in trace elements: A spatial approach using electron microprobe a nd X-ray microfluorescence analyses. Major and trace element concentrations have been determined from thin sections of an unpolluted and well-structured B horizon that presents macroscopic heterogeneous aggregates. Electron scanning microprobe and X-ray microfluorescence analyses hav...

Pommier, C.; Perrin, C.; Dorne, R.; D.R.issard, J.P.; Arnould, P., 2002: Hemoperitoneum and pregnancy in a patient with von Willebrand's disease type 3. A 24-year-old woman with type 3 (characterised by a blood level of von Willebrand factor less than 1%) was admitted to the surgical intensive care unit with an haemorrhagic shock. She was pregnant (Beta HCG = 115 Ul.L-1), the echography of the abd...