Search Results - "Elmahmoudi, Hejer"

Coexistence of JAK2V617F and CALR mutation in Tunisian cohort with Philadelphia-negative chronic myeloproliferative neoplasms by Elmahmoudi, Hejer, Chourouk, Jbali, Wejden, Elborgi, Ons, Ghali, Kouther, Zahra, Emna, Gouider

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Multiplex-PCR is a useful and economical method to detect large exon deletions in severe hemophilia A in developing countries: Experience of Tunisia by Elmahmoudi, Hejer, JBALI, Chourouk, BESBES, Sawsen, BARRED, Rabeb, BELAKHAL, Rayhane, GOUIDER, Emna, ELMAHMOUDI, Hajer

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Factor VIII haplotypes frequencies in Tunisian hemophiliacs A by Elmahmoudi, Hejer, Belhedi, Nejla, Jlizi, Asma, Zahra, Kaouther, Meddeb, Balkis, Ben Ammar Elgaaied, Amel, Gouider, Emna

“…The development of inhibitors against factor 8 (F8) is the most serious complication of replacement therapy with F8 in children with severe hemophilia. It was…”
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Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia by Elmahmoudi, Hejer, Ben-Lakhal, Fatma, Elborji, Wijden, Jlizi, Asma, Zahra, Kaouther, Sassi, Rim, Zorgan, Moez, Meddeb, Balkis, Elgaaied Ben Ammar, Amel, Gouider, Emna

“…Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations…”
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First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations by Elmahmoudi, Hejer, Khodjet-el-khil, Houssein, Wigren, Edvard, Jlizi, Asma, Zahra, Kaouther, Pellechia, Dorothé, Vinciguerra, Christine, Meddeb, Balkis, Elggaaied, Amel Ben Ammar, Gouider, Emna

“…Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of…”
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Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency by Ouardani, Cherifa, Elmahmoudi, Hejer, ELborgi, Wejden, Gharbi, Maroua, Meriem, Achour, Gouider, Emna

“…Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder characterized by a weak phenotypic and genotypic correlation. This study…”
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Molecular heterogeneity of factor XI deficiency in Tunisia by Gharbi, Maroua, Elmahmoudi, Hejer, ElBorgi, Wejden, Ouardani, Cherifa, Achour, Meriem, Gouider, Emna

“…Factor XI (FXI) deficiency is a rare inherited bleeding disorder that is highly prevalent in Ashkenazi Jewish ancestry but sporadically observed in most ethnic…”
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Molecular heterogeneity of factor XI deficiency in Tunisia by Gharbi, Maroua, Elmahmoudi, Hejer, ElBorgi, Wejden, Ouardani, Cherifa, Achour, Meriem, Gouider, Emna

“…Factor XI (FXI) deficiency is a rare inherited bleeding disorder that is highly prevalent in Ashkenazi Jewish ancestry but sporadically observed in most ethnic…”
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The Glanzmann's Thrombasthenia in Tunisia: A Cohort Study by Elmahmoudi, Hejer, Achour, Meriem, Belhedi, Nejla, Ben Neji, Hend, Zahra, Kaouther, Meddeb, Balkis, Gouider, Emna

“…The Glanzmann's thrombasthenia (GT) is a rare autosomal-recessive bleeding disorder with uncommon neonatal revelation. It is due to abnormalities of…”
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Identification of a novel mutation in the MCFD2 gene in a Tunisian family with combined factor V and VIII deficiency by Hejer, Elmahmoudi, Adnen, Laatiri Med, Asma, Jlizi, Ibtihel, Makhlouf, Benammar-Elgaaied, Amel, Gouider, Emna

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Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency by Abdallah, Hejer Elmahmoudi, Gouider, Emna, Stambouli, Nejla, Amor, Mohamed Ben, Jlizi, Asma, Belhedi, Nejla, Sassi, Rim, Khodjetelkhil, Houssein, Meddeb, Balkis, Hafsia, Raouf, Hamza, Adel, Elgaaied, Amel Benammar

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Structural analysis of two novel mutations in MCFD2 gene causing combined coagulation factors V and VIII deficiency by Abdallah, Hejer Elmahmoudi, Gouider, Emna, Stambouli, Nejla, Ben Amor, Mohamed, Jlizi, Asma, Belhedi, Nejla, Sassi, Rim, Khodjetelkhil, Houssein, Meddeb, Balkis, Hafsia, Raouf, Hamza, Adel, Elgaaied, Amel Benammar

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