المؤلفون: Vianney Gilard, Justine Ferey, Florent Marguet, Maxime Fontanilles, Franklin Ducatez, Carine Pilon, Céline Lesueur, Tony Pereira, Carole Basset, Isabelle Schmitz-Afonso, Frédéric Di Fioré, Annie Laquerrière, Carlos Afonso, Stéphane Derrey, Stéphane Marret, Soumeya Bekri, Abdellah Tebani

المصدر: Cancers, Vol 13, Iss 20, p 5157 (2021)

مصطلحات موضوعية: glioblastoma, high-grade glioma, brain tumor, neuro-oncology, metabolomics, omics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/13/20/5157; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/d2549cd6b91e4976aaa36c1fc7c4429e

المؤلفون: Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Aubert, Olivier Benveniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri, Abdellah Tebani

المصدر: Journal of Personalized Medicine, Vol 11, Iss 9, p 898 (2021)

مصطلحات موضوعية: inborn errors of metabolism, Fabry disease, lysosomal storage diseases, metabolomics, systems biology, machine learning, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4426/11/9/898; https://doaj.org/toc/2075-4426

URL الوصول: https://doaj.org/article/db4de5aef5874a2281a9ea4d5f1e0206

المؤلفون: Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri

المصدر: Life, Vol 11, Iss 3, p 187 (2021)

مصطلحات موضوعية: NGLY1-CDDG, NGLY1, congenital disorder of deglycosylation, hypolacrimia, alacrimia, movement disorder, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/11/3/187; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/c93a77fd112040858a0f105c6bb0c938

المؤلفون: Abdellah Tebani, Frédéric Barbey, Olivier Dormond, Franklin Ducatez, Stéphane Marret, Albina Nowak, Soumeya Bekri

المصدر: Translational Research.

مصطلحات موضوعية: Physiology (medical), Biochemistry (medical), Public Health, Environmental and Occupational Health, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4cca182fd05cbdb211f59f46cb3d239d
https://doi.org/10.1016/j.trsl.2023.02.006

المؤلفون: Franklin Ducatez, Carine Pilon, Justine Ferey, Stéphane Marret, Soumeya Bekri, Abdellah Tebani

المصدر: Clinica Chimica Acta. 542:117278

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, General Medicine, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6c766f0b515821096496c1f87390e06
https://doi.org/10.1016/j.cca.2023.117278

المؤلفون: Abdellah Tebani, Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, Tony Pereira, Raphaël Auber, Olivier Benveniste, Stéphane Marret, Olivier Lidove, Soumeya Bekri

المساهمون: Département de biochime métabolique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe Hospitalier Diaconesses Croix Saint-Simon, Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517 (MP3CV), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, Normandie Université (NU), Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of neonatal pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, Rouen University Hospital, Rouen University, Team 4 NeoVasc - Region Team ERI 28 INSERM (Neovasc), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Médecine interne [Diaconesses Croix Saint-Simon]

المصدر: MOLECULAR GENETICS AND METABOLISM
MOLECULAR GENETICS AND METABOLISM, 2022, 135 (2, S), pp.S118. ⟨10.1016/j.ymgme.2021.11.314⟩

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2e6723ace75f6f0ca70bb7979524fc
https://hal-u-picardie.archives-ouvertes.fr/hal-03696974

المؤلفون: Agnès Boullier, Olivier Lidove, Carine Pilon, Raphaël Aubert, Tony Pereira, Olivier Benveniste, Franklin Ducatez, Stéphane Marret, Soumeya Bekri, Abdellah Tebani, Wladimir Mauhin

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe Hospitalier Diaconesses Croix Saint-Simon, Mécanismes physiopathologiques et conséquences des calcifications vasculaires - UR UPJV 7517 (MP3CV), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie, CHU Rouen, Normandie Université (NU), Service de médecine interne et d'immunologie clinique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Département de médecine interne et immunologie clinique [CHU Pitié-Salpêtrière] (DMIIC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 898, p 898 (2021)
Volume 11
Issue 9
Journal of Personalized Medicine, MDPI, 2021, 11 (9), pp.898. ⟨10.3390/jpm11090898⟩

مصطلحات موضوعية: Systems biology, Medicine (miscellaneous), inborn errors of metabolism, Disease, Computational biology, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, Biogenic amine, medicine, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, lysosomal storage diseases, 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Fabry disease, systems biology, Omics, medicine.disease, metabolomics, 3. Good health, Enzyme, machine learning, chemistry, Medicine, Sphingomyelin, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a6e9b4bbea4b412248257534f7dcd30
http://europepmc.org/articles/PMC8468728

المؤلفون: Franklin Ducatez, Marc G. Berger, Carine Pilon, Thomas Plichet, Tony Pereira, Céline Lesueur, Juliette Berger, Stéphane Marret, Soumeya Bekri, Abdellah Tebani

المصدر: Molecular Genetics and Metabolism. 135:S39-S40

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::922dcd7788c5d1c7eb4720b6c46c9a79
https://doi.org/10.1016/j.ymgme.2021.11.089

المؤلفون: Kimiyo Raymond, Sarah Snanoudj, Anne-Marie Guerrot, François Lecoquierre, Sophie Coutant, Ivana Dabaj, Soumeya Bekri, Stéphane Marret, Gaël Nicolas, Bénédicte Sudrié-Arnaud, Abdellah Tebani, Franklin Ducatez, Pascale Saugier-Veber

المصدر: Life, Vol 11, Iss 187, p 187 (2021)
Life

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Pediatrics, medicine.medical_specialty, elevated transaminases, Movement disorders, congenital disorder of deglycosylation, Case Report, Disease, 030105 genetics & heredity, Alacrima, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Medicine, NGLY1, hypotonia, alacrimia, lcsh:Science, Index case, Exome, Ecology, Evolution, Behavior and Systematics, Exome sequencing, business.industry, Paleontology, medicine.disease, Hypotonia, developmental delay, 030104 developmental biology, Space and Planetary Science, lcsh:Q, movement disorder, medicine.symptom, business, NGLY1-CDDG, hypolacrimia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0893ec627169ffd440d051a0e07383eb
https://www.mdpi.com/2075-1729/11/3/187