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1دورية أكاديمية
المؤلفون: Pappalardo, P, Benoist, J-F, Bax, BE, Carra-Dallière, C, Marelli, C, Levene, M, Begue, L, Rolland, A, Flori, N, Rivier, F, Blanchet, C, Munnich, A, Altwegg, R, Meyer, P, Roubertie, A
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112589/1/Pregnancy%20in%20MNGIE.pdfTest; Pappalardo, P; Benoist, J-F; Bax, BE; Carra-Dallière, C; Marelli, C; Levene, M; Begue, L; Rolland, A; Flori, N; Rivier, F; et al. Pappalardo, P; Benoist, J-F; Bax, BE; Carra-Dallière, C; Marelli, C; Levene, M; Begue, L; Rolland, A; Flori, N; Rivier, F; Blanchet, C; Munnich, A; Altwegg, R; Meyer, P; Roubertie, A (2020) Pregnancy in MNGIE: a clinical and metabolic honeymoon. Ann Clin Transl Neurol, 7 (12). pp. 2484-2488. ISSN 2328-9503 https://doi.org/10.1002/acn3.51202Test SGUL Authors: Bax, Bridget Elizabeth
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2دورية أكاديمية
المؤلفون: de Rooy, R. L. P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B., Bok, L. A.
المصدر: de Rooy , R L P , Halbertsma , F J , Struijs , E A , van Spronsen , F J , Lunsing , R J , Schippers , H M , van Hasselt , P M , Plecko , B , Wohlrab , G , Whalen , S , Benoist , J F , Valence , S , Mills , P B & Bok , L A 2018 , ' Pyridoxine dependent epilepsy : Is late onset a predictor for favorable outcome? ' , European Journal of Paediatric Neurology , vol. 22 , no. 4 , pp. ....
مصطلحات موضوعية: Pyridoxine dependent epilepsy, Late onset, SEIZURES, ANTIQUITIN, DIAGNOSIS, DISEASE, COHORT
الإتاحة: https://doi.org/10.1016Test/j.ejpn.2018.03.009
https://hdl.handle.net/11370/aee35e7c-8d1e-4f9b-b631-37f4e228fdc7Test
https://research.rug.nl/en/publications/aee35e7c-8d1e-4f9b-b631-37f4e228fdc7Test
http://discovery.ucl.ac.uk/10059101/1/Mills_de%20Rooy%20PDE%20revised%2006032018.pdfTest -
3دورية أكاديمية
المؤلفون: Jaccard, A., Philippe, L., Couronné, L., Benoist, J.‐F., Hermine, O.
المصدر: Hematological Oncology ; volume 35, issue S2, page 126-127 ; ISSN 0278-0232 1099-1069
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4دورية أكاديمية
المؤلفون: Dakroub, H., Nowak, M., Abi-Saleh, N., Benoist, J.-F., Paul, J.-L., Fournier, N.
المصدر: Atherosclerosis ; volume 331, page e69 ; ISSN 0021-9150
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
الإتاحة: https://doi.org/10.1016Test/j.atherosclerosis.2021.06.199
https://api.elsevier.com/content/article/PII:S0021915021004718?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021915021004718?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Imbard, A., Benoist, J.-F.
المصدر: Perfectionnement en Pédiatrie ; volume 4, issue 2, page E24-E25 ; ISSN 2588-932X
الإتاحة: https://doi.org/10.1016Test/j.perped.2021.03.011
https://api.elsevier.com/content/article/PII:S2588932X21000474?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2588932X21000474?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Dakroub, H., Nowak, M., Benoist, J.-F., Paul, J.-L., Fournier, N.
المصدر: Atherosclerosis ; volume 315, page e25 ; ISSN 0021-9150
مصطلحات موضوعية: Cardiology and Cardiovascular Medicine
الإتاحة: https://doi.org/10.1016Test/j.atherosclerosis.2020.10.089
https://api.elsevier.com/content/article/PII:S0021915020306717?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021915020306717?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: de Rooy, R. L.P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B., Bok, L. A.
المساهمون: Cluster C, Metabole ziekten patientenzorg, Child Health
مصطلحات موضوعية: Late onset, Pyridoxine dependent epilepsy, Pediatrics, Perinatology, and Child Health, Clinical Neurology
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Deschamps, Romain, Stankoff, B, Vignal, C, Benoist, J F, Wolf, Barry, Gout, O
المصدر: Research Administration Articles
مصطلحات موضوعية: Adult, Biotinidase Deficiency, Child, France, Humans, Infant, Newborn, Optic Nerve Diseases
العلاقة: https://scholarlycommons.henryford.com/research_articles/9Test; http://sfxhosted.exlibrisgroup.com/hfhs?sid=Entrez:PubMed&id=pmid:29778138Test
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9دورية أكاديمية
المؤلفون: Paquay, S., Bourillon, A., Pichard, S., Benoist, J. F., Lonlay, P., De, Dobbelaere, D., Fouilhoux, A., Guffon, N., Rouvet, I., Labarthe, F., Mention, K., Touati, G., Valayannopoulos, V., Baulny, H. O., De, Elmaleh-Berges, M., Acquaviva-Bourdain, C., Vianey-Saban, Christine, Schiff, M.
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: ISSN: 0141-8955.
مصطلحات موضوعية: BRAIN, 2-METHYLACETOACETATE, 3-OXOTHIOLASE DEFICIENCY, AMINO-ACID-METABOLISM, BETA-KETOTHIOLASE DEFICIENCY, COENZYME-A, DEFECTS, INBORN-ERRORS, ISOLEUCINE DEGRADATION, PROPIONIC ACIDEMIA, [SDV]Life Sciences [q-bio]
العلاقة: hal-01848296; https://hal.science/hal-01848296Test
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10دورية أكاديمية
المؤلفون: Tostivint, I., Royer, N., Nicolas, M., Bourillon, A., Czerkiewicz, I., Becker, P.‐H., Muller, F., Benoist, J.‐F.
المصدر: Clinical Genetics ; volume 92, issue 6, page 632-638 ; ISSN 0009-9163 1399-0004