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1دورية أكاديمية
المؤلفون: Portnoï, Marie-France1 marie-france.portnoi@trs.aphp.fr, Chantot-Bastaraud, Sandra1, Christin-Maitre, Sophie2, Carbonne, Bruno3, Beaujard, Marie-Paule1, Keren, Boris4, Lévy, Jonathan1, Dommergues, Marc5, Cabrol, Sylvie6, Hyon, Capucine1, Siffroi, Jean-pierre1
المصدر: European Journal of Medical Genetics. Nov2012, Vol. 55 Issue 11, p635-640. 6p.
مصطلحات موضوعية: *FAMILIAL diseases, *TURNER'S syndrome, *Y chromosome abnormalities, *X chromosome abnormalities, *CHROMOSOMAL translocation, *MOSAICISM, *GENETIC counseling
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2دورية أكاديمية
المؤلفون: Portnoï, Marie-France1 marie-france.portnoi@trs.aphp.fr
المصدر: European Journal of Medical Genetics. Mar2009, Vol. 52 Issue 2/3, p88-93. 6p.
مصطلحات موضوعية: *GENETICS, *EMBRYOLOGY, *BIOLOGICAL adaptation, *MEDICINE
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3دورية أكاديمية
المؤلفون: Hyon, Capucine1, Marlin, Sandrine2, Chantot-Bastaraud, Sandra1, Mabboux, Philippe1, Beaujard, Marie-Paule1, Al Ageeli, Essam1, Vazquez, Marie-Paule3, Picard, Arnaud3, Siffroi, Jean-Pierre1, Portnoï, Marie-France1 marie-france.portnoi@trs.aphp.fr
المصدر: European Journal of Medical Genetics. May2011, Vol. 54 Issue 3, p287-291. 5p.
مصطلحات موضوعية: *CHROMOSOME abnormalities, *CHROMOSOMAL translocation, *COMPARATIVE genomic hybridization, *PSYCHOMOTOR disorders, *CYTOGENETICS, *FACIAL abnormalities, *FLUORESCENCE in situ hybridization, *DEVELOPMENTAL delay
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4دورية أكاديمية
المؤلفون: Beaujard, Marie-Paule1, Chantot, Sandra2, Dubois, Michèle3, Keren, Boris4, Carpentier, Wassila5, Mabboux, Philippe2, Whalen, Sandra2, Vodovar, Michel3, Siffroi, Jean-Pierre2, Portnoï, Marie-France2 marie-france.portnoi@trs.aphp.fr
المصدر: European Journal of Medical Genetics. Sep2009, Vol. 52 Issue 5, p321-327. 7p.
مصطلحات موضوعية: *HUMAN chromosome abnormality diagnosis, *DNA probes, *MOLECULAR biology, *DNA microarrays, *SYNDROMES, *GENETIC mutation, *INFANT boys, *GENETIC disorders, *DISEASES
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5دورية أكاديمية
المؤلفون: Ader, Flavie1 (AUTHOR) flavie.ader@aphp.fr, Heide, Solveig1 (AUTHOR), Marzin, Pauline1 (AUTHOR), Afenjar, Alexandra2 (AUTHOR), Diguet, Flavie3,4 (AUTHOR), Chantot Bastaraud, Sandra1 (AUTHOR), Rollat-Farnier, Pierre-Antoine3,5 (AUTHOR), Sanlaville, Damien3,4 (AUTHOR), Portnoï, Marie-France1 (AUTHOR), Siffroi, Jean-Pierre1 (AUTHOR), Schluth-Bolard, Caroline3,4 (AUTHOR)
المصدر: European Journal of Medical Genetics. Apr2020, Vol. 63 Issue 4, pN.PAG-N.PAG. 1p.
مصطلحات موضوعية: *NUCLEOTIDE sequencing, *GENETIC disorders, *CORPUS callosum, *DWARFISM, *DEVELOPMENTAL delay, *CHROMOSOME analysis, *EXOMES