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1دورية أكاديمية
المؤلفون: Molinari, Florence1, Raas-Rothschild, Annick2, Rio, Marlène1, Fiermonte, Giuseppe3, Encha-Razavi, Ferechté1, Palmieri, Luigi3,4, Palmieri, Ferdinando3,4, Ben-Neriah, Ziva2, Kadhom, Noman1, Vekemans, Michel1, Attié-Bitach, Tania1, Munnich, Arnold1, Rustin, Pierre1, Colleaux, Laurence1 colleaux@necker.fr
المصدر: American Journal of Human Genetics. Feb2005, Vol. 76 Issue 2, p334-339. 6p.
مصطلحات موضوعية: *GENETIC disorder diagnosis, *GENE mapping, *GENETIC mutation, *AMINO acids, *EPILEPSY, *SEIZURES (Medicine)
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2دورية أكاديمية
المؤلفون: Raas-Rothschild, Annick, Wanders, Ronald J. A., Mooijer, Petra A. W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.
المصدر: American Journal of Human Genetics. Apr2002, Vol. 70 Issue 4, p1062. 7p.
مصطلحات موضوعية: *GENETIC disorders, *USHER'S syndrome, *RETINITIS pigmentosa, *DEAFNESS, *PEROXISOMAL disorders
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3دورية أكاديمية
المؤلفون: Abou Jamra, Rami1 rami.aboujamra@uk-erlangen.de, Philippe, Orianne2, Raas-Rothschild, Annick3, Eck, Sebastian H.4, Graf, Elisabeth4, Buchert, Rebecca1, Borck, Guntram2, Ekici, Arif1, Brockschmidt, Felix F.5,6, Nöthen, Markus M.5,6, Munnich, Arnold2, Strom, Tim M.4,7, Reis, Andre1, Colleaux, Laurence2 laurence.colleaux@inserm.fr
المصدر: American Journal of Human Genetics. Jun2011, Vol. 88 Issue 6, p788-795. 8p.
مصطلحات موضوعية: *PROTEIN deficiency, *PARAPLEGIA, *COGNITION disorders, *DISEASE progression, *INTELLECTUAL disabilities, *COGNITIVE ability, *MUSCLE hypotonia, *CEREBRAL palsy, *GENETICS
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4دورية أكاديمية
المؤلفون: Bargal, Ruth1, Cormier-Daire, Valerie2, Ben-Neriah, Ziva1, Le Merrer, Martine2, Sosna, Jacob3, Melki, Judith1, Zangen, David H.4, Smithson, Sarah F.5, Borochowitz, Zvi6, Belostotsky, Ruth7, Raas-Rothschild, Annick1 annick@hadassah.org.il
المصدر: American Journal of Human Genetics. Jan2009, Vol. 84 Issue 1, p80-84. 5p. 3 Color Photographs, 1 Chart, 2 Graphs.
مصطلحات موضوعية: *GENETIC mutation, *DYSPLASIA, *CHROMOSOMES, *CALCIFICATION, *HAPLOIDY, ARM abnormalities
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5دورية أكاديمية
المؤلفون: Dagoneau, Nathalie1, Scheffer, Deborah1, Huber, Céline1, Al-Gazali, Lihadh I.2, Di Rocco, Maja3, Godard, Anne4, Martinovic, Jelena1, Raas-Rothschild, Annick5, Sigaudy, Sabine6, Unger, Sheila7, Nicole, Sophie8, Fontaine, Bertrand8, Taupin, Jean-Luc9, Moreau, Jean-François9, Superti-Furga, Andrea10, Le Merrer, Martine1, Bonaventure, Jacky1, Munnich, Arnold1, Legeai-Mallet, Laurence1
المصدر: American Journal of Human Genetics. Feb2004, Vol. 74 Issue 2, p298-305. 8p.
مصطلحات موضوعية: *HUMAN chromosome abnormalities, *DYSPLASIA, *CELL transformation, *CELLULAR pathology, *HUMAN genetics, *MOLECULAR genetics