المؤلفون: Le, T. L., Sribudiani, Y., Dong, X., Huber, C., Kois, C., Baujat, G., Gordon, C. T., Mayne, V., Galmiche, L., Serre, V., Goudin, N., Zarhrate, M., Bole-Feysot, C., Masson, C., Nitschke, P., Verheijen, F. W., Pais, L., Pelet, A., Sadedin, S., Pugh, J. A., Shur, N., White, S. M., Chehadeh, S. E., Christodoulou, J., Cormier-Daire, V., Hofstra, R. M. W., Lyonnet, S., Tan, T. Y., Attie-Bitach, T., Kerstjens-Frederikse, W. S., Amiel, J., Thomas, S.

المصدر: Le , T L , Sribudiani , Y , Dong , X , Huber , C , Kois , C , Baujat , G , Gordon , C T , Mayne , V , Galmiche , L , Serre , V , Goudin , N , Zarhrate , M , Bole-Feysot , C , Masson , C , Nitschke , P , Verheijen , F W , Pais , L , Pelet , A , Sadedin , S , Pugh , J A , Shur , N , White , S M , Chehadeh , S E , Christodoulou ....

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/773a0f29-d29b-4988-be18-691723d3eb2bTest

الإتاحة: https://doi.org/10.1038/s41431-020-00740-6Test
https://hdl.handle.net/11370/773a0f29-d29b-4988-be18-691723d3eb2bTest
https://research.rug.nl/en/publications/773a0f29-d29b-4988-be18-691723d3eb2bTest
https://pure.rug.nl/ws/files/159229401/Biallelic_loss_of_function_variations_in_SMO_encoding_the_key_transducer_of_the_Sonic_Hedgehog_pathway_cause_a_broad_phenotypic_spectrum_of_hedgehogopathies.pdfTest

المؤلفون: Barny, I., Perrault, I., Michel, C., Goudin, N., Defoort-Dhellemmes, S., Ghazi, I., Kaplan, J., Rozet, J.M., Gerard, X.

المصدر: Genes, vol. 10, no. 5

مصطلحات موضوعية: Antigens, Neoplasm/genetics, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Cilia elongation, Flanders founder c.4723A >, Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, spontaneous nonsense correction

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31091803; info:eu-repo/semantics/altIdentifier/pissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0B5866B8F2446; https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

الإتاحة: https://doi.org/10.3390/genes10050368Test
https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test
https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

المؤلفون: Habarou, F., Hamel, Y., Haack, T.B., Feichtinger, R.G., Lebigot, E., Marquardt, I., Busiah, K., Laroche, C., Madrange, M., Grisel, C., Pontoizeau, C., Eisermann, M., Boutron, A., Chrétien, D., Chadefaux-Vekemans, B., Barouki, R., Bole-Feysot, C., Nitschke, P., Goudin, N., Boddaert, N., Nemazanyy, I., Delahodde, A., Kölker, S., Rodenburg, R.J., Korenke, G.C., Meitinger, T., Strom, T.M., Prokisch, H., Rotig, A., Ottolenghi, C., Mayr, J.A., de Lonlay, P.

المصدر: Am. J. Hum. Genet. 101, 283-290 (2017)

مصطلحات موضوعية: Lipt2, Encephalopathy, Hyperglycinemia, Lipoic Acid, Metabolic Flux, Pyruvate Dehydrogenase, α-oxoglutarate Dehydrogenase

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28757203; info:eu-repo/semantics/altIdentifier/wos/WOS:000406854800012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51648Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.07.001Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51648Test

المؤلفون: Danelli, L, Claver, J, Munoz, I, Fischer, A, Madera-Salcedo, IK, Huang, J, Gonzalez-Espinosa, C, Basile, GS, Blank, U, Ménasché, G, Goudin, N, Kurowska, M

العلاقة: The Journal of Cell Biology; The Journal of Cell Biology, 2016, v. 215 n. 2, p. 203-216; 216; 280018; PMC5084650; 203; http://hdl.handle.net/10722/248314Test; 215

الإتاحة: https://doi.org/10.1083/jcb.201605073Test
http://hdl.handle.net/10722/248314Test

المؤلفون: Le, TL, Sribudiani, Yunia, Dong, XM, Huber, C, Kois, C, Baujat, G, Gordon, C T, Mayne, V, Galmiche, L, Serre, V, Goudin, N, Zarhrate, M, Bole-Feysot, C, Masson, C, Nitschke, P, Verheijen, Frans, Pais, L, Pelet, A, Sadedin, S, Pugh, JA, Shur, N, White, SM, El Chehadeh, S, Christodoulou, J, Cormier-Daire, V, Hofstra, Robert, Lyonnet, S, Tan, TY, Attie-Bitach, T, Kerstjens-Frederikse, WS, Amiel, J, Thomas, S

المصدر: Le , TL , Sribudiani , Y , Dong , XM , Huber , C , Kois , C , Baujat , G , Gordon , C T , Mayne , V , Galmiche , L , Serre , V , Goudin , N , Zarhrate , M , Bole-Feysot , C , Masson , C , Nitschke , P , Verheijen , F , Pais , L , Pelet , A , Sadedin , S , Pugh , JA , Shur , N , White , SM , El Chehadeh , S , Christodoulou , J , Cormier-Daire ....

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.04.010Test
https://pure.eur.nl/en/publications/89c145d8-a79d-4b28-a343-28ff88191e75Test

المؤلفون: Niel, O., Humbert, C., Garfa, M., Goudin, N., Bérard, E., Deschênes, G., Jeanpierre, C.

المصدر: Archives de Pédiatrie ; volume 23, issue 6, page 635 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.arcped.2016.03.028Test
https://api.elsevier.com/content/article/PII:S0929693X16301269?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X16301269?httpAccept=text/plainTest

المؤلفون: Smaniotto, S., Schneider, E., Goudin, N., Bricard-Rignault, R., Machavoine, F., Dardenne, M., M., Dy, Savino, W.

المساهمون: Cytokines, hématopoïèse et réponse immune (CHRI), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1932-6203.

مصطلحات موضوعية: [SPI.OTHER]Engineering Sciences [physics]/Other

العلاقة: hal-00845010; https://hal.science/hal-00845010Test; PUBMEDCENTRAL: PMC3785469

الإتاحة: https://doi.org/10.1371/journal.pone.0070292Test
https://hal.science/hal-00845010Test