Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
Masmoudi, Saber, Antonarakis, Stylianos E., Schwede, Torsten, Ghorbel, Abdel Monem, Gratri, M'hamed, Pappasavas, Marie-Pierre, Drira, Mohamed, Elgaied-Boulila, Amel, Wattenhofer, Marie, Rossier, Colette, Scott, Hamish S., Ayadi, Hammadi, Guipponi, Michel
Published in Human mutation (01.08.2001)
Published in Human mutation (01.08.2001)
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Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates
Ben Arab, Saïda, Hmani, Mounira, Denoyelle, Françoise, Boulila-Elgaied, Amel, Chardenoux, Sebastien, Hachicha, Slah, Petit, Christine, Ayadi, Hammadi
Published in Clinical genetics (01.06.2000)
Published in Clinical genetics (01.06.2000)
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Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation
Masmoudi, S, Charfedine, I, Hmani, M, Grati, M, Ghorbel, A M, Elgaied-Boulila, A, Drira, M, Hardelin, J P, Ayadi, H
Published in American journal of medical genetics (03.01.2000)
Published in American journal of medical genetics (03.01.2000)
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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
Hmani, M, Ghorbel, A, Boulila-Elgaied, A, Ben Zina, Z, Kammoun, W, Drira, M, Chaabouni, M, Petit, C, Ayadi, H
Published in European journal of human genetics : EJHG (01.04.1999)
Published in European journal of human genetics : EJHG (01.04.1999)
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Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE
MASMOUDI, SABER, ELGAIED-BOULILA, AMEL, KASSAB, ILYES, ARAB, SAIDA BEN, BLANCHARD, STEPHANE, BOUZOUITA, JA-EL, DRIRA, MOHAMED, KASSAB, AICHA, HACHICHA, SLAH, PETIT, CHRISTINE, AYADI, HAMMADI
Published in Journal of medical genetics (01.11.2000)
Published in Journal of medical genetics (01.11.2000)
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