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Mutational screening of the USH2Agene in Spanish USH patients reveals 23 novel pathogenic mutations
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Mutational screening of the USH2Agene in Spanish USH patients reveals 23 novel pathogenic mutations
Garcia-Garcia Gema, Jaijo Teresa, Rodrigo Regina, Avila-Fernandez Almudena, Blanco-Kelly Fiona, Bernal Sara, Navarro Rafael, Diaz-Llopis Manuel, Baiget Montserrat, Ayuso Carmen, Millan, Aller Elena, Aparisi, Leon
13 pages
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Kamugisha Erasmus, Minde Mercy, Kataraihya Johaness, Kongola Gilbert, Kironde Fred, Swedberg, Swedberg Göte, Sun Jing
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Efficacy of artemether-lumefantrine in treatment of malaria among under-fives and prevalence of drug resistance markers in Igombe-Mwanza, north-western Tanzania
Kamugisha Erasmus, Minde Mercy, Kataraihya Johaness, Kongola Gilbert, Kironde Fred, Swedberg, Swedberg Göte, Sun Jing
8 pages
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Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
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Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
Chkioua Latifa, Khedhiri Souhir, Kassab Asma, Bibi Amina, Ferchichi Salima, Froissart Roseline, Vianey-Saban Christine, Laradi Sandrine, Miled, Miled Abdelhedi
8 pages
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Frequency of the Common MYHMutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients
Ashton, Meldrum, Mcphillips, Kairupan, Scott
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Germline Missense Changes in the APC Gene and Their Relationship to Disease
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Ben, Chkioua Latifa, Khedhiri Souhir, Chahed Henda, Ferchichi Salima, Laradi Sandrine, Miled, Miled Abdelhedi
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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
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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
Elmahmoudi Hejer, Ben-Lakhal Fatma, Elborji Wijden, Jlizi Asma, Zahra Kaouther, Sassi Rim, Zorgan Moez, Meddeb Balkis, Elgaaied, Gouider Emna, Gouider
5 pages
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First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations
Elmahmoudi Hejer, Khodjet-El-Khil Houssein, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied, Gouider Emna, Gouider
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First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations
Elmahmoudi Hejer, Khodjet-El-Khil Houssein, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied, Gouider Emna, Gouider
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The Association of the COMT V158M Polymorphism with Endometrial/Ovarian Cancer in HNPCC Families Adhering to the Amsterdam Criteria
Ashton, Meldrum, Mcphillips, Suchy Janina, Kurzawski Grzegorz, Lubinski Jan, Scott
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Thyroid cancer in a patient with a germline MSH2mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
Stulp, Herkert, Karrenbeld Arend, Mol Bart, Vos, Sijmons
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Henri Michaux : déplacements et mutations de l'ailleurs poétique., Henri Michaux : shifting and mutations of the poetic space
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