Variants in CIB2 cause DFNB48 and not USH1J
Booth, K.T., Kahrizi, K., Babanejad, M., Daghagh, H., Bademci, G., Arzhangi, S., Zareabdollahi, D., Duman, D., El‐Amraoui, A., Tekin, M., Najmabadi, H., Azaiez, H., Smith, R.J.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
Lebeko, K., Sloan-Heggen, C. M., Noubiap, J. J. N., Dandara, C., Kolbe, D. L., Ephraim, S. S., Booth, K. T., Azaiez, H., Santos-Cortez, R. L. P., Leal, S. M., Smith, R. J. H., Wonkam, A.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Journal Article
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population
Moteki, H., Azaiez, H., Booth, K.T., Shearer, A.E., Sloan, C. M., Kolbe, D.L., Nishio, S., Hattori, M., Usami, S., Smith, R.J.H.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Aeromagnetic study of buried basement structures and lineaments of Sahel region (Eastern Tunisia, North Africa)
Azaiez, H., Gabtni, H., Bédir, M., Campbell, S.
Published in Arabian journal of geosciences (01.04.2018)
Published in Arabian journal of geosciences (01.04.2018)
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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
del Castillo, F J, Rodríguez-Ballesteros, M, Álvarez, A, Hutchin, T, Leonardi, E, de Oliveira, C A, Azaiez, H, Brownstein, Z, Avenarius, M R, Marlin, S, Pandya, A, Shahin, H, Siemering, K R, Weil, D, Wuyts, W, Aguirre, L A, Martín, Y, Moreno-Pelayo, M A, Villamar, M, Avraham, K B, Dahl, H-H M, Kanaan, M, Nance, W E, Petit, C, Smith, R J H, Van Camp, G, Sartorato, E L, Murgia, A, Moreno, F, del Castillo, I
Published in Journal of medical genetics (01.07.2005)
Published in Journal of medical genetics (01.07.2005)
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A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
Wilch, E, Azaiez, H, Fisher, RA, Elfenbein, J, Murgia, A, Birkenhäger, R, Bolz, H, Da Silva-Costa, SM, Del Castillo, I, Haaf, T, Hoefsloot, L, Kremer, H, Kubisch, C, Le Marechal, C, Pandya, A, Sartorato, EL, Schneider, E, Van Camp, G, Wuyts, W, Smith, RJH, Friderici, KH
Published in Clinical genetics (01.09.2010)
Published in Clinical genetics (01.09.2010)
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A genotype-phenotype correlation for GJB2 (connexin 26) deafness
Cryns, K, Orzan, E, Murgia, A, Huygen, P L M, Moreno, F, del Castillo, I, Parker Chamberlin, G, Azaiez, H, Prasad, S, Cucci, R A, Leonardi, E, Snoeckx, R L, Govaerts, P J, Van de Heyning, P H, Van de Heyning, C M, Smith, R J H, Van Camp, G
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
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Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity
Messaoud, O., Ben Rekaya, M., Ouragini, H., Benfadhel, S., Azaiez, H., Kefi, R., Gouider-Khouja, N., Mokhtar, I., Amouri, A., Boubaker, M. S., Zghal, M., Abdelhak, S.
Published in Archives of Dermatological Research (01.03.2012)
Published in Archives of Dermatological Research (01.03.2012)
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Geophysical study of Hammam Sidi Maamar geothermal site in Central Tunisia for sustainable development
Azaiez, H., Gabtni, H., Chabaane, A., Sayem, G., Bédir, M.
Published in Journal of African earth sciences (1994) (01.10.2020)
Published in Journal of African earth sciences (1994) (01.10.2020)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie, Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul I W, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard J H, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon
Published in Genome Biology (01.01.2014)
Published in Genome Biology (01.01.2014)
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Genotype-phenotype correlations for SLC26A4-related deafness
AZAIEZ, Hela, TAO YANG, PRASAD, Sai, SORENSEN, Jessica L, NISHIMURA, Carla J, KIMBERLING, William J, SMITH, Richard J. H
Published in Human genetics (01.12.2007)
Published in Human genetics (01.12.2007)
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Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families: Letter to the Editor
Lebeko, K., Sloan-Heggen, C. M., Noubiap, J. J. N., Dandara, C., Kolbe, D. L., Ephraim, S. S., Booth, K. T., Azaiez, H., Santos-Cortez, R. L. P., Leal, S. M., Smith, R. J. H., Wonkam, A.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Journal Article
GJB2: The spectrum of deafness-causing allele variants and their phenotype
Azaiez, Hela, Chamberlin, G. Parker, Fischer, Stephanie M., Welp, Chelsea L., Prasad, Sai D., Taggart, R. Thomas, Castillo, Ignacio del, Camp, Guy Van, Smith, Richard J. H.
Published in Human mutation (01.10.2004)
Published in Human mutation (01.10.2004)
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Journal Article
A proton and neutron beam polarimeter at SATURNE II
Bystricky, J., Deregel, J., Lehar, F., de Lesquen, A., van Rossum, L., Fontaine, J.M., Perrot, F., Whitten, C.A., Hasegawa, T., Newsom, C.R., Leo, W.R., Onel, Y., Dalla Torre-Colautti, S., Penzo, A., Azaiez, H., Michalowicz, A.
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.09.1985)
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.09.1985)
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Journal Article
Seismic sequence stratigraphy of the Jurassic of the central Atlas, Tunisia
Tanfous Amri, D., Soussi, M., Bédir, M., Azaiez, H.
Published in Journal of African earth sciences (1994) (01.05.2008)
Published in Journal of African earth sciences (1994) (01.05.2008)
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High resolution scintillation hodoscope using a position sensitive photomultiplier
Ditta, J., Sillou, D., Michalowicz, A., Azaiez, H., Kuroda, K.
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.01.1984)
Published in Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment (01.01.1984)
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Measurement of the spin correlation parameters Aoosk and Aookk in pp elastic scattering at 0.84 and 1.0 GeV
Lac, C.D., Ball, J., Bystricky, J., Chaumette, P., Derégel, J., Fabre, J., Lehar, F., De Lesquen, A., Van Rossum, L., Fontaine, J.M., Perrot, F., Leo, W.R., Onel, Y., Azaiez, H., Michalowicz, A., Penzo, A.
Published in Nuclear physics. B (22.02.1988)
Published in Nuclear physics. B (22.02.1988)
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A novel DFNB 1 deletion allele supports the existence of a distant cis -regulatory region that controls GJB2 and GJB6 expression
WILCH, E, AZAIEZ, H, HOEFSLOO, L, KREMERL, H, KUBISCH, C, LE MARECHAL, C, PANDYA, A, SARTORATO, E. L, SCHNEIDER, E, VAN CAMP, G, WUYTS, W, SMITH, Rjh, FISHER, R. A, FRIDERICIC, K. H, ELFENBEIN, J, MURGIA, A, BIRKENHÄGER, R, BOLZ, H, DA SILVA-COSTA, S. M, DEL CASTILLOI, I, HAAF, T
Published in Clinical genetics (2010)
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Published in Clinical genetics (2010)
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Measurement of the spin correlation parameter A00 for pp elastic scattering in the energy range 0.72–1.1 GeV
Bystricky, J., Chaumette, P., Deregel, J., Fabre, J., Lehar, F., de Lesquen, A., van Rossum, L., Fontaine, J.M., Perrot, F., Ball, J., Hasegawa, T., Newsom, C.R., Penzo, A., Onel, Y., Azaiez, H., Michalowicz, A.
Published in Nuclear physics. B (1985)
Published in Nuclear physics. B (1985)
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