المؤلفون: Vuillaumier-Barrot, S., Quijano-Roy, S., Bouchet-Seraphin, C., Maugenre, S., Peudenier, S., Van den Bergh, P., Marcorelles, P., Avila-Smirnow, D., Chelbi, M., Romero, N.B., Carlier, R.Y., Estournet, B., Guicheney, P., Seta, N.

العلاقة: https://repositorio.uc.cl/handle/11534/69978Test

الإتاحة: https://doi.org/10.1016/j.nmd.2008.12.005Test
https://repositorio.uc.cl/handle/11534/69978Test

المؤلفون: Svahn, J., Laforêt, P., Vial, C., Streichenberger, N., Romero, N., Bouchet-Séraphin, C., Bruneel, A., Dupré, T., Seta, N., Menassa, R., Michel-Calemard, L., Stojkovic, T.

المصدر: Neuromuscular Disorders ; volume 29, issue 7, page 497-502 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2019.05.004Test
https://api.elsevier.com/content/article/PII:S0960896618302293?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896618302293?httpAccept=text/plainTest

المؤلفون: Tsukamoto, M, Suzuki, K, Seta, N, Takeuchi, T

المصدر: Poster Presentations

الإتاحة: https://doi.org/10.1136/annrheumdis-2017-eular.5692Test

المؤلفون: Dubail, J, Huber, C, Chantepie, S, Sonntag, S, Tüysüz, B, Mihci, E, Gordon, CT, Steichen-Gersdorf, E, Amiel, J, Nur, B, Stolte-Dijkstra, I, van Eerde, AM, van Gassen, KL, Breugem, CC, Stegmann, A, Lekszas, C, Maroofian, R, Karimiani, EG, Bruneel, A, Seta, N, Munnich, A, Papy-Garcia, D, De La Dure-Molla, M, Cormier-Daire, V

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdfTest; Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; et al. Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; Stolte-Dijkstra, I; van Eerde, AM; van Gassen, KL; Breugem, CC; Stegmann, A; Lekszas, C; Maroofian, R; Karimiani, EG; Bruneel, A; Seta, N; Munnich, A; Papy-Garcia, D; De La Dure-Molla, M; Cormier-Daire, V (2018) SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Nat Commun, 9 (1). p. 3087. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-05191-8Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1038/s41467-018-05191-8Test
https://openaccess.sgul.ac.uk/id/eprint/110393Test/
https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdfTest

المؤلفون: Fitoussi, R., Verdin, A., Blanchet, N., Lecas, S., Cachon, B Fresnel, Vié, K., Courcot, D., Momas, I., Seta, N., Cazier, F., Achard, S.

المصدر: Journal of Investigative Dermatology ; volume 137, issue 10, page S218 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jid.2017.07.460Test
https://api.elsevier.com/content/article/PII:S0022202X17323254?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X17323254?httpAccept=text/plainTest

المؤلفون: Sabry, S., Vuillaumier-Barrot, S., Mintet, E., Fasseu, M., Valayannopoulos, V., Héron, D., Dorison, N., Mignot, C., Seta, N., Chantret, I., Dupré, T., Moore, S. E. H.

المصدر: Orphanet Journal of Rare Diseases ; volume 11, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-016-0468-1Test

المؤلفون: Rakoto-Andrianarivelo, Mala, Gumede, Nicksy, Jegouic, Sophie, Balanant, Jean, Andriamamonjy, Seta N., Rabemanantsoa, Sendraharimanana, Birmingham, Maureen, Randriamanalina, Bakolalao, Nkolomoni, Léon, Venter, Marietjie, Schoub, Barry D., Delpeyroux, Francis, Reynes, Jean-Marc

المصدر: The Journal of Infectious Diseases, 2008 May . 197(10), 1427-1435.

الوصول الحر: https://www.jstor.org/stable/40253853Test

المؤلفون: Seta, N., Kofinas, J., Druckenmiller, S., Labella, P., Noyes, N.

المصدر: Fertility and Sterility ; volume 104, issue 3, page e300 ; ISSN 0015-0282

مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine

الإتاحة: https://doi.org/10.1016/j.fertnstert.2015.07.940Test
https://api.elsevier.com/content/article/PII:S0015028215014429?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0015028215014429?httpAccept=text/xmlTest

المؤلفون: Noyes, N., Lee, H., Druckenmiller, S., Labella, P., Seta, N., Ampeloquio, E., Grifo, J.

المصدر: Fertility and Sterility ; volume 104, issue 3, page e273 ; ISSN 0015-0282

مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine

الإتاحة: https://doi.org/10.1016/j.fertnstert.2015.07.858Test
https://api.elsevier.com/content/article/PII:S0015028215013606?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0015028215013606?httpAccept=text/xmlTest

المؤلفون: Seta, N., Goldman, K.N., Fino, M.E., Druckenmiller, S., Labella, P., McCulloh, D.H., Noyes, N.

المصدر: Fertility and Sterility ; volume 104, issue 3, page e88-e89 ; ISSN 0015-0282

مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine

الإتاحة: https://doi.org/10.1016/j.fertnstert.2015.07.273Test
https://api.elsevier.com/content/article/PII:S001502821500775X?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S001502821500775X?httpAccept=text/xmlTest