يعرض 1 - 18 نتائج من 18 نتيجة بحث عن '"Willis, Mary J"', وقت الاستعلام: 0.49s تنقيح النتائج
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    Academic Journal

    المصدر: American Journal of Human Genetics. 109(9)

    وصف الملف: application/pdf

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    Academic Journal

    المصدر: Nature Communications. 13(1)

    وصف الملف: application/pdf

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    Academic Journal

    المساهمون: National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences, Sanofi-Aventis US LLC, Sarepta Therapeutics Inc, Ionis Pharmaceuticals Inc, Horizon Pharmaceuticals Inc, Orchard, Alexion Pharmaceuticals Inc, Chiesi Farmaceutici SpA, Amgen Inc, Inozyme Pharma, Ultragenyx Pharmaceutical Inc

    المصدر: The American Journal of Human Genetics ; volume 111, issue 12, page 2618-2642 ; ISSN 0002-9297

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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المساهمون: Victorian Government’s Operational Infrastructure Support Program, Aevi Genomic Medicine, Inc., Canadian Institutes of Health Research, Natural Sciences and Engineering Research Council, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Heart Lung and Blood Institute, Baylor Hopkins Center for Mendelian Genomics, US National Institute of Neurological Disorders and Stroke, Muscular Dystrophy Association, Uehara Memorial Foundation

    المصدر: Brain ; volume 143, issue 1, page 112-130 ; ISSN 0006-8950 1460-2156

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    Academic Journal

    المساهمون: Bundesministerium für Bildung und Forschung, Tuscany Region Call for Health 2018, Fondazione Cassa di Risparmio di Firenze, Australian Genomics Health Alliance, National Health and Medical Research Council, US National Institutes of Health, National Institute of Neurological Disorders and Stroke, European Reference Network for rare and complex epilepsies

    المصدر: Brain ; volume 145, issue 9, page 3274-3287 ; ISSN 0006-8950 1460-2156

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    Academic Journal

    المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger, Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

    مصطلحات موضوعية: ddc:no

    Relation: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Muller, Juliane S., Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie orcid:0000-0003-4900-9877 , Santorelli, Filippo M., Alfares, Ahmed A., Zhu, Changlian, Meszarosova, Anna Uhrova, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R., Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T., Strom, Tim M., De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana orcid:0000-0001-8939-1447 , Alfadhel, Majid, van de Warrenburg, Bart P., Portier, Ruben, Bergmann, Carsten, Firouzabadi, Saghar Ghasemi, Jin, Sheng Chih orcid:0000-0002-5777-7262 , Bilguvar, Kaya, Hamed, Sherifa orcid:0000-0002-1441-3530 , Abdelhameed, Mohammed, Haridy, Nourelhoda A., Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W., Mau-Them, Frederic Tran, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele orcid:0000-0003-4788-9719 , Zara, Federico orcid:0000-0001-9744-5222 , Salpietro, Vincenzo, Scala, Marcello orcid:0000-0003-2194-7239 , Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laetitia, Schmitt, Emmanuelle, Lacaze, Elodie, Kuepper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J. H., Grand, Katheryn, Graham, John M., Jr., Lewis, Richard A., Millan, Francisca, Duman, Ozgur, Dundar, Nihal, Uyanik, Gokhan, Schols, Ludger orcid:0000-0001-7774-5025 , Nuernberg, Peter, Nuernberg, Gudrun, Bordes, Andrea Catala, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Boucanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S., Shamseldin, Hanan, Al Tala, Saeed, Varaghchi, Jamileh Rezazadeh, Najafi, Maryam, Deschner, Selina, Glaeser, Dieter, Huettel, Wolfgang, Kruer, Michael C., Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Zuchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schuele, Rebecca, Horvath, Rita orcid:0000-0002-9841-170X , Houlden, Henry, Bartesaghi, Luca orcid:0000-0001-8218-4648 , Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark orcid:0000-0003-1985-3671 and Senderek, Jan (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain, 144. S. 1422 - 1435. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Periodical

    المصدر: MacHome; Feb2005, Vol. 13 Issue 2, p6-7, 2p, 2 Color Photographs

    الشركة/الكيان: AMERICA Online Inc.

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    Academic Journal

    المؤلفون: Pant, Devesh C (AUTHOR), Dorboz, Imen (AUTHOR), Schlüter, Agatha (AUTHOR), Fourcade, Stéphane (AUTHOR), Launay, Nathalie (AUTHOR), Joya, Javier (AUTHOR), Aguilera-Albesa, Sergio (AUTHOR), Yoldi, Maria Eugenia (AUTHOR), Casasnovas, Carlos (AUTHOR), Willis, Mary J (AUTHOR), Ruiz, Montserrat (AUTHOR), Ville, Dorothée (AUTHOR), Lesca, Gaetan (AUTHOR), Siquier-Pernet, Karine (AUTHOR), Desguerre, Isabelle (AUTHOR), Yan, Huifang (AUTHOR), Wang, Jinming (AUTHOR), Burmeister, Margit (AUTHOR), Brady, Lauren (AUTHOR), Tarnopolsky, Mark (AUTHOR)

    المصدر: Journal of Clinical Investigation. Mar2019, Vol. 129 Issue 3, p1240-1256. 17p. 1 Black and White Photograph, 2 Diagrams, 5 Charts, 3 Graphs.

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