المؤلفون: R. K. J. Olsen, E. KoåˆaåTMã­kovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch

المساهمون: R.K.J. Olsen, E. KoåˆaåTMã­kovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch

مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.04.006Test
http://hdl.handle.net/2434/523684Test

المؤلفون: C Acquaviva, C Vianey-Saban, H Liang, G Deschênes, Justine Bacchetta, Pierre Cochat, S. Lemoine, A. Bertholet-Thomas, A Labbé, Aude Servais

المصدر: EMC - Pediatría. 53:1-12

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, business.industry, 030232 urology & nephrology, Medicine, business, Humanities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::42e56bbc7f18423ca4d87b17d764e6dfTest
https://doi.org/10.1016/s1245-1789Test(18)91445-9

المؤلفون: A.F. Dessein, M. Fontaine, B.S. Andresen, N. Gregersen, M. Brivet, D. Rabier, S. Napuri-Gouel, D. Dobbelaere, K. Mention-Mulliez, A. Martin-Ponthieu, G. Briand, D.S. Millington, C. Vianey-Saban, R.J.A. Wanders, J. Vamecq

المصدر: Orphanet Journal of Rare Diseases (17501172) vol.5 (2010) nr.1 p.26

العلاقة: http://hdl.handle.net/11245/1.339826Test

الإتاحة: http://hdl.handle.net/11245/1.339826Test

المؤلفون: B.S. Andresen, S. Olpin, B.J.H.M. Poorthuis, H.R. Scholte, C. Vianey-Saban, R.J.A. Wanders, L. Ylst, M. Morris, M. Pourfarzam, K. Bartlett, E.R. Baumgartner, J.B.C. de Klerk, L.D. Schroeder, Th.J. Corydon, H. Lund, V. Winter, P. Bross, L. Bolund, N. Gregersen

المصدر: American Journal of Human Genetics (00029297) vol.64 (1999) p.479-494

العلاقة: http://hdl.handle.net/11245/1.150120Test

الإتاحة: http://hdl.handle.net/11245/1.150120Test

المؤلفون: A. Zine, A. Szymanowicz, C. Stock, P. Jeannoël, C. Vianey-Saban, M.-J. Neyron, D. Cheillan

المصدر: Immuno-analyse & Biologie Spécialisée. 27:69-72

مصطلحات موضوعية: Clotting factor, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Biochemistry (medical), Clinical Biochemistry, Galactosemia, Breastfeeding, Physical examination, Jaundice, medicine.disease, Malnutrition, medicine, Fetal distress, Vomiting, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5ef9a7b0ad9324162e996d31ffe894bTest
https://doi.org/10.1016/j.immbio.2012.01.009Test

المؤلفون: S, Wagner, C, Vianey-Saban, G-S, Salomons, E, Schmitt, F, Feillet

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 21(1)

مصطلحات موضوعية: Chromosomes, Human, Pair 14, Male, Genetic Carrier Screening, Riboflavin, DNA Mutational Analysis, Brain, Brain Diseases, Metabolic, Inborn, Prognosis, Magnetic Resonance Imaging, Alcohol Oxidoreductases, Consanguinity, Early Diagnosis, Carnitine, Child, Preschool, Early Medical Intervention, Humans, Drug Therapy, Combination, Female, Child, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::891f7df8a373874f32acc818a8b4fafbTest
https://pubmed.ncbi.nlm.nih.gov/24321868Test

المؤلفون: M.JoncquelC. Curt, D. Cheillan, G. Briand, G.S. Salomons, K. Mention-Mulliez, D. Dobbelaere, J.M. Cuisset, L. Lion-François, V.Des Portes, A. Chabli, V. Valayannopoulos, J.F. Benoist, J.M. Pinard, G. Simard, O. Douay, K. Deiva, M. Tardieu, A. Afenjar, D. Héron, F. Rivier, B. Chabrol, F. Prieur, F. Cartault, G. Pitelet, A. Goldenberg, S. Bekri, M. Gerard, R. Delorme, N. Porchet, C. Vianey-Saban, J. Vamecq

المصدر: Molecular Genetics and Metabolism

مصطلحات موضوعية: Creatine, Creatinine, Guanidinoacetate, Laboratory values, Plasma, Urine

العلاقة: http://okina.univ-angers.fr/publications/ua10627Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2013.09.005Test
http://okina.univ-angers.fr/publications/ua10627Test

المؤلفون: A, Brassier, C, Ottolenghi, N, Boddaert, P, Sonigo, T, Attié-Bitach, A-E, Millischer-Bellaiche, G, Baujat, V, Cormier-Daire, V, Valayannopoulos, N, Seta, M, Piraud, B, Chadefaux-Vekemans, C, Vianey-Saban, R, Froissart, P, de Lonlay

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 19(9)

مصطلحات موضوعية: Pregnancy Complications, Fetal Diseases, Macromolecular Substances, Pregnancy, Prenatal Diagnosis, Practice Guidelines as Topic, Humans, Female, Energy Metabolism, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::715557ce45867e8a8bd72bf40103a842Test
https://pubmed.ncbi.nlm.nih.gov/22884749Test

المؤلفون: F, Feillet, H, Ogier, D, Cheillan, C, Aquaviva, F, Labarthe, J, Baruteau, B, Chabrol, P, de Lonlay, V, Valayanopoulos, R, Garnotel, D, Dobbelaere, G, Briand, E, Jeannesson, A, Vassault, C, Vianey-Saban

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 19(2)

مصطلحات موضوعية: Neonatal Screening, Decision Trees, Infant, Newborn, Humans, France, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a62cf50cb2ab3dee949bd4f19adef500Test
https://pubmed.ncbi.nlm.nih.gov/22244319Test

المؤلفون: H. Yapo-Ette, A. Miras, Daniel Malicier, C. Vianey-Saban, L. Fanton

المصدر: Forensic Science International. 124:22-24

مصطلحات موضوعية: Adult, medicine.medical_specialty, Time since death, Time Factors, 3-Hydroxyacyl CoA Dehydrogenases, Forensic Medicine, Biology, 3-Hydroxyacyl-CoA Dehydrogenase, Pathology and Forensic Medicine, Endocrinology, Biochemistry, Age estimation, Internal medicine, Freezing, medicine, Humans, Homicide, Muscle, Skeletal, Law, Accidental Deaths

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73bbd9c65589b247c782dac162b848dbTest
https://doi.org/10.1016/s0379-0738Test(01)00566-7