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1دورية أكاديمية
المؤلفون: Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc
المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 6, page 1658-1663 ; ISSN 1552-4825 1552-4833
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2دورية أكاديمية
المؤلفون: Pollegioni, Loredano, Campanini, Barbara, Good, Jean-Marc, Motta, Zoraide, Murtas, Giulia, Buoli Comani, Valeria, Pavlidou, Despina-Christina, Mercier, Noëlle, Mittaz-Crettol, Laureane, Sacchi, Silvia, Marchesani, Francesco
المصدر: Scientific Reports; 5/30/2024, Vol. 14 Issue 1, p1-14, 14p
مصطلحات موضوعية: PROTEIN conformation, MISSENSE mutation, METHYL aspartate receptors, AMINO acids, GLYCINE receptors, BIOSYNTHESIS
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3دورية أكاديمية
المؤلفون: Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J, Ghika, Joseph, Baumgartner, Matthias R, Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel
المصدر: Royer‐Bertrand, Béryl; Tsouni, Pinelopi; Mullen, Patrick; Campos Xavier, Belinda; Mittaz Crettol, Lauréane; Lobrinus, Alexander J; Ghika, Joseph; Baumgartner, Matthias R; Rivolta, Carlo; Superti‐Furga, Andrea; Kuntzer, Thierry; Francklyn, Christopher; Tran, Christel (2019). Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant. Annals of Clinical and Translational Neurology:1072-1080.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/181011/1/Royer-Bertrand_et_al-2019-Annals_of_Clinical_and_Translational_Neurology.pdfTest; urn:issn:2328-9503
الإتاحة: https://doi.org/10.5167/uzh-18101110.1002/acn3.791Test
https://www.zora.uzh.ch/id/eprint/181011Test/
https://www.zora.uzh.ch/id/eprint/181011/1/Royer-Bertrand_et_al-2019-Annals_of_Clinical_and_Translational_Neurology.pdfTest -
4دورية أكاديمية
المؤلفون: Debray, François-Guillaume, Damjanovic, Katarina, Rosset, Robin, Mittaz-Crettol, Lauréane, Roux, Clothilde, Braissant, Olivier, Barbey, Frédéric, Bonafé, Luisa, De Bandt, Jean-Pascal, Tappy, Luc, Paquot, Nicolas, Tran, Christel
المصدر: The American Journal of Clinical Nutrition ; volume 108, issue 2, page 292-299 ; ISSN 0002-9165
مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1093/ajcn/nqy092Test
https://api.elsevier.com/content/article/PII:S0002916522029240?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002916522029240?httpAccept=text/plainTest
http://academic.oup.com/ajcn/article-pdf/108/2/292/28886482/nqy092.pdfTest -
5دورية أكاديمية
المؤلفون: Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine
مصطلحات موضوعية: Paediatric research, Trauma
جغرافية الموضوع: UMW:14638
وصف الملف: text/html
العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-10404/128Test; urn:nbn:at:at-ubmuw:3-10404; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-10404Test; local:99145284495603331; system:AC15596159
الإتاحة: https://doi.org/10.1038/srep34017Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-10404Test -
6دورية أكاديمية
المؤلفون: Bonafé, Luisa, Kariminejad, Ariana, Li, Jia, Royer‐Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz‐Crettol, Lauréane, Campos‐Xavier, Belinda, Nampoothiri, Sheela, Unger, Sheila, Rivolta, Carlo, Levade, Thierry, Superti‐Furga, Andrea
المساهمون: Faculté de Biologie et Médecine de l'Université de Lausanne, The SNF, The Leenaards Foundation, Lausanne
المصدر: Arthritis & Rheumatology ; volume 68, issue 9, page 2323-2327 ; ISSN 2326-5191 2326-5205
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7دورية أكاديمية
المؤلفون: Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine
المصدر: Scientific Reports ; volume 6, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/srep34017Test
https://www.nature.com/articles/srep34017.pdfTest
https://www.nature.com/articles/srep34017Test -
8دورية أكاديمية
المؤلفون: Preusser Mattos, Eduardo, A. Magalhães, José Antônio, Mittaz-Crettol, Laureane, Azambuja, Ricardo, Okada, Lilian, P. Cavalcanti, Denise, Cuzzi, Juliana, Badalotti, Mariangela, Petracco, Rafaella, Petracco, Alvaro, Schuler-Faccini, Lavinia, Vieira Sanseverino, Maria Teresa
المصدر: Preusser Mattos , E , A. Magalhães , J A , Mittaz-Crettol , L , Azambuja , R , Azambuja , R , Okada , L , P. Cavalcanti , D , Cuzzi , J , Badalotti , M , Petracco , R , Petracco , A , Schuler-Faccini , L & Vieira Sanseverino , M T 2014 , ' Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum : From Prenatal to Preimplantation Genetic Diagnosis ' , Open Journal of Obstetrics and Gynecology , pp. 399-404 . https://doi.org/10.4236/ojog.2014.47060Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.4236/ojog.2014.47060Test
https://hdl.handle.net/11370/5bddd4ef-3b0f-4fbb-aa4e-f68aceb648f5Test
https://research.rug.nl/en/publications/5bddd4ef-3b0f-4fbb-aa4e-f68aceb648f5Test
https://pure.rug.nl/ws/files/83938802/OJOG_2014053014182794.pdfTest -
9دورية أكاديمية
المؤلفون: Mattos, Eduardo P., Magalhaes, Jose Antonio A., Mittaz-Crettol, Laureane, Azambuja, Ricardo, Okada, Lilian, Cavalcanti, Denise P., Cuzzi, Juliana, Badalotti, Mariangela, Petracco, Rafaella, Petracco, Alvaro, Schuler-Faccini, Lavinia, Sanseverino, Maria Teresa V.
المصدر: Open Journal of Obstetrics and Gynecology ; volume 04, issue 07, page 399-404 ; ISSN 2160-8792 2160-8806
مصطلحات موضوعية: General Medicine
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10دورية أكاديمية
المصدر: 1059-7794 ; Human mutation
مصطلحات موضوعية: Human medicine
وصف الملف: pdf
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000300705300019
النص الكامل