يعرض 1 - 8 نتائج من 8 نتيجة بحث عن '"Carles, Soukeyna"', وقت الاستعلام: 0.34s تنقيح النتائج
  1. 1
    Academic Journal
    No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia

    المؤلفون: Tuffery-Giraud, Sylvie, Cavalier, Laurent, Roubertie, Agathe, Guittard, Caroline, Carles, Soukeyna, Calvas, Patrick, Echenne, Bernard, Coubes, Philippe, Claustres, Mireille

    مصطلحات موضوعية: Electronic letters

    وصف الملف: text/html

    Relation: http://jmg.bmj.com/cgi/content/short/38/10/e35; http://dx.doi.org/10.1136/jmg.38.10.e35

    الاتاحة: http://jmg.bmj.com/cgi/content/short/38/10/e35
    https://doi.org/10.1136/jmg.38.10.e35

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  2. 2
    Academic Journal
    First putative sequence alterations in the minimal CFTR promoter region

    المؤلفون: ROMEY, MARIE-CATHERINE, GUITTARD, CAROLINE, CARLES, SOUKEYNA, DEMAILLE, JACQUES, CLAUSTRES, MIREILLE, RAMSAY, MICHELE

    مصطلحات موضوعية: Letters to the editor

    وصف الملف: text/html

    Relation: http://jmg.bmj.com/cgi/content/short/36/3/263; http://dx.doi.org/10.1136/jmg.36.3.263

    الاتاحة: http://jmg.bmj.com/cgi/content/short/36/3/263
    https://doi.org/10.1136/jmg.36.3.263

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  3. 3
    Academic Journal
    Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

    المؤلفون: Pallares-Ruiz, Nathalie, Carles, Soukeyna, Des Georges, Marie, Guittard, Caroline, Arnal, Françoise, Humeau, Claude, Claustres, Mireille

    المصدر: Human Reproduction ; volume 14, issue 12, page 3035-3040 ; ISSN 1460-2350 0268-1161

    مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine

    الاتاحة: http://dx.doi.org/10.1093/humrep/14.12.3035

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  4. 4
    Academic Journal
    Evidence for a Common Ethnic Origin of Cystic Fibrosis Mutation 3120+1G→A in Diverse Populations

    المؤلفون: Dörk, Thilo, El-Harith, El-Harith A., Stuhrmann, Manfred, Macek, Milan, Egan, Michelle, Cutting, Garry R., Tzetis, Maria, Kanavakis, Emmanuel, Carles, Soukeyna, Claustres, Mireille, Padoa, Carolyn, Ramsay, Michèle, Schmidtke, Jörg

    المصدر: The American Journal of Human Genetics ; volume 63, issue 2, page 656-662 ; ISSN 0002-9297

    الاتاحة: http://dx.doi.org/10.1086/301950
    https://api.elsevier.com/content/article/PII:S0002929707615110?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S0002929707615110?httpAccept=text/plain

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  5. 5
    Academic Journal
    Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities

    المؤلفون: Desgeorges, Marie, Mégarbané, André, Guittard, Caroline, Carles, Soukeyna, Loiselet, Jacques, Demaille, Jacques, Claustres, M.

    المصدر: Human Genetics ; volume 100, issue 2, page 279-283 ; ISSN 0340-6717 1432-1203

    الاتاحة: http://dx.doi.org/10.1007/s004390050505
    http://link.springer.com/content/pdf/10.1007/s004390050505.pdf
    http://link.springer.com/article/10.1007/s004390050505/fulltext.html
    http://link.springer.com/content/pdf/10.1007/s004390050505

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  6. 6
    Academic Journal
    A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

    المؤلفون: Bombieri, Cristina, Giorgi, Silvia, Carles, Soukeyna, de Cid, Rafael, Belpinati, Francesca, Tandoi, Caterina, Pallares-Ruiz, Nathalie, Lazaro, Conxi, Ciminelli, Bianca Maria, Romey, Marie-Catherine, Casals, Teresa, Pompei, Fiorenza, Gandini, Giorgio, Claustres, Mireille, Estivill, Xavier, Pignatti, Pier Franco, Modiano, Guido

    المصدر: Human Genetics; Feb2000, Vol. 106 Issue 2, p172-178, 7p

    مصطلحات موضوعية: CYSTIC fibrosis, GENETIC mutation, GENETIC polymorphisms, ETIOLOGY of diseases, GENE mapping, GENETIC disorders, GENETICS


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  7. 7
    Academic Journal
    Andrology. Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

    المؤلفون: Pallares-Ruiz, Nathalie, Carles, Soukeyna, Des Georges, Marie, Guittard, Caroline, Arnal, Françoise, Humeau, Claude, Claustres, Mireille

    المصدر: Human Reproduction; Dec1999, Vol. 14 Issue 12, p3035-3040, 6p

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  8. 8
    Academic Journal
    Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.

    المؤلفون: de Meeus, Anne, Guittard, Caroline, Desgeorges, Marie, Carles, Soukeyna, Demaille, Jacques, Claustres, Mireille

    المصدر: Human Mutation; 1998, Vol. 11 Issue 6, p480-480, 1p


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