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1دورية أكاديميةP.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features
المؤلفون: Rees, M., Fukuzawa, A., Nikoopour, R., Kho, A., Qi, J., Fernandez-Garcia, M., Wraige, E., Cirak, S., Pfuhl, M., Fluss, J., Muntoni, F., Sarkozy, A., Schröder, R., Voermans, N., Wilichowski, E., Matthews, E., Oates, E., Ferreiro, A., Jungbluth, H., Gautel, M.
المصدر: Neuromuscular Disorders ; volume 29, page S135 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.348Test
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2دورية أكاديمية
المؤلفون: Phadke, R., Sarkozy, A., Oates, E., Mein, R., Bodi, I., Feng, L., Manzur, A., Thomas, N., Illingworth, M., Mazanti, I., Ellard, S., Sewry, C., Gautel, M., Jungbluth, H., Muntoni, F.
المصدر: Neuromuscular Disorders ; volume 29, page S135 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.350Test
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3دورية أكاديمية
المؤلفون: Sarkozy, A., Fernandez-Garcia, M., Manzur, A., Mein, R., Bodi, I., Phadke, R., Wraige, E., Deshpande, C., Holder, S., Hurst, J., Gautel, M., Jungbluth, H., Muntoni, F.
المصدر: Neuromuscular Disorders ; volume 29, page S80 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2019.06.165Test
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4دورية أكاديمية
المؤلفون: Hackman, P., Savarese, M., Bönneman, C., Ferreiro, A., Beggs, A., Gautel, M., Davis, M., Evangelista, T., Glumac, J. Nikodinovic, Laporte, J., Smith, J., Richard, I., Granzier, H., Schneider, R., Jungbluth, H., Foye, S., Frase, A. Rockett, Udd, B.
المصدر: Neuromuscular Disorders ; volume 27, page S239-S240 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2017.06.519Test
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5دورية أكاديمية
المؤلفون: Gautel, M., Rees, M., Nikoopour, R., Fukuzawa, A., Fraternali, F., Laddach, A., Pernigo, S., Holt, M., Steiner, R.
المصدر: Neuromuscular Disorders ; volume 26, page S88 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2016.06.014Test
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6دورية أكاديمية
المؤلفون: Byrne, S., Bodi, I., Sewry, C., Goebel, H.H., Lidov, H., Dionisi-Vici, C., Rogers, R.C., Manchester, D., Al-Owain, M., Said, E., Pilz, D., Ryan, M., Lourence, C. Marques, Manzur, A.Y., Robb, S.A., Cullup, T., Whyte, T., Muntoni, F., Gautel, M., Jungbluth, H.
المصدر: Neuromuscular Disorders ; volume 24, issue 9-10, page 833-834 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2014.06.141Test
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7دورية أكاديمية
المؤلفون: Whyte, T., Byrne, S., Kho, A.L., Cullup, T., Robb, S., Sewry, C., Bodi, I., Hart, N., Howard, R., Gautel, M., Muntoni, F., Jungbluth, H.
المصدر: Neuromuscular Disorders ; volume 24, issue 9-10, page 834 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2014.06.142Test
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8دورية أكاديمية
المؤلفون: Vihola, A., Palmio, J., Tasca, G., Eymard, B., Evila, A., Lange, S., Xiang, F., Edstrom, L., Hackman, P., Gautel, M., Udd, B.
المصدر: Neuromuscular Disorders ; volume 24, issue 9-10, page 831-832 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2014.06.134Test
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9دورية أكاديمية
المؤلفون: Chauveau, C., Bönnemann, C.G., Julien, C., Kho, A.L., Marks, H., Talim, B., Maury, P., Uro-Coste, E., Alexandrovich, A., Vihola, A., Foley, A.R., Santi, M., Udd, B., Topaloglu, H., Moore, S.A., Gotthardt, M., Samuels, M.E., Gautel, M., Ferreiro, A.
المصدر: Neuromuscular Disorders ; volume 24, issue 9-10, page 804-805 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2014.06.048Test
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10دورية أكاديمية
المؤلفون: Chauveau, C., Bönnemann, C., Alexandrovich, A., Kho, A.L., Julien, C., Foley, R., Vihola, A., Udd, B., Samuels, M.E., Gautel, M., Ferreiro, A.
المصدر: Neuromuscular Disorders ; volume 22, issue 9-10, page 840 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2012.06.127Test
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