Zobrazeno 1 - 10
of 260
pro vyhledávání: '"Sloboda, N."'
Autor:
Boughalem A; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Ciorna-Monferrato V; Génétique Médicale et Oncogénétique, Hôpital Femme Mère Enfant, CHR Metz-Thionville, site de Mercy, 1, Allée du Château, Metz Cedex, France., Sloboda N; Génétique Médicale et Oncogénétique, Hôpital Femme Mère Enfant, CHR Metz-Thionville, site de Mercy, 1, Allée du Château, Metz Cedex, France., Guegan A; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Page F; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Zimmer S; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Benazra M; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Kleinfinger P; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Lohmann L; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Valduga M; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Receveur A; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Martin F; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France., Trost D; Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Aug 02; Vol. 15, pp. 1375770. Date of Electronic Publication: 2024 Aug 02 (Print Publication: 2024).
Autor:
Sloboda N; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France., Renard E; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France; Service de MédecineInfantile, Centre Hospitalier Régional Universitaire, Nancy, France. Electronic address: e.renard@chru-nancy.fr., Lambert L; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France., Bonnet C; Laboratoire de Génétique, Centre Hospitalier Régional Universitaire, Nancy, France., Leheup B; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France., Todosi C; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Laboratoire de Génétique, Centre Hospitalier Régional Universitaire, Nancy, France., Schmitt E; Service de Neuroradiologie, Centre Hospitalier Régional Universitaire, Nancy, France., Feillet F; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France; Service de MédecineInfantile, Centre Hospitalier Régional Universitaire, Nancy, France., Feigerlova E; Service d'Endocrinologie, Centre Hospitalier Régional Universitaire, Nancy, France; INSERM UMR_S 1116 - DCAC, Medical Faculty, Université de Lorraine, Nancy, France., Piton A; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091, Strasbourg, France., Journeau P; Service de Chirurgie Orthopédique Infantile, Hôpital d'Enfants, Vandoeuvre les Nancy, France., Klein M; Service d'Endocrinologie, Centre Hospitalier Régional Universitaire, Nancy, France., Maillard L; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Service de Neurologie, Centre Hospitalier Régional Universitaire, Nancy, France; CNRS UMR7039,CRAN, Université de Lorraine, Nancy, France., Chelly J; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091, Strasbourg, France., Renaud M; Service de Génétique Clinique, Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; Centre de Référence des Epilepsies Rares (CRéER) Centre Hospitalier Régional Universitaire, Nancy, F-54000, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Hospitalier Régional Universitaire, Nancy, France.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Nov; Vol. 66 (11), pp. 104853. Date of Electronic Publication: 2023 Sep 25.
Autor:
Sloboda N; Service de Génétique Clinique, CHRU Nancy, Nancy, France., Lambert L; Service de Génétique Clinique, CHRU Nancy, Nancy, France., Ciorna V; Service de Génétique, CHR Metz-Thionville, France., Bruel AL; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France., Tran Mau-Them F; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France.; INSERM U1231, LNC UMR1231 GAD, Université de Bourgogne, Dijon, France., Gomola V; Service de Chirurgie Viscérale Infantile, CHRU Nancy, Nancy, France., Lemelle JL; Service de Chirurgie Viscérale Infantile, CHRU Nancy, Nancy, France., Klein O; Service de Neurochirurgie Pédiatrique, CHRU Nancy, Nancy, France., Camoin-Schweitzer MC; Service de néphrologie pédiatrique, dialyse, transplantation rénale, CHRU Nancy, Nancy, France., Magnavacca M; Service de néphrologie pédiatrique, dialyse, transplantation rénale, CHRU Nancy, Nancy, France., Legagneur C; Unité d'Endocrinologie Pédiatrique et Diabétologie, CHRU Nancy, Nancy, France., Ezsto ML; Service de Gynécologie-Obstétrique, CHR Metz-Thionville, France., Bonnet C; Laboratoire de Génétique, CHRU Nancy, Nancy, France., Philippe C; Laboratoire de génétique, Innovation en diagnostic génomique des maladies rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, CHU Dijon, Dijon, France.; INSERM U1231, LNC UMR1231 GAD, Université de Bourgogne, Dijon, France., Leheup B; Service de Génétique Clinique, CHRU Nancy, Nancy, France.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1869. Date of Electronic Publication: 2022 Mar 23.
Akademický článek
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Autor:
Skvortsova, Liliya1 (AUTHOR), Perfilyeva, Anastassiya1 (AUTHOR), Bespalova, Kira1,2 (AUTHOR) Kira.b.bespalova@gmail.com, Kuzovleva, Yelena1 (AUTHOR), Kabysheva, Nailya1 (AUTHOR), Khamdiyeva, Ozada1,2 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 8/16/2024, Vol. 19 Issue 1, p1-9. 9p.
Autor:
Besnard T; CHU de Nantes, Service de Génétique Médicale, Nantes, France. thomas.besnard@chu-nantes.fr.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France. thomas.besnard@chu-nantes.fr., Sloboda N; INSERM, UMR 1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France., Goldenberg A; Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Küry S; CHU de Nantes, Service de Génétique Médicale, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Cogné B; CHU de Nantes, Service de Génétique Médicale, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Breheret F; CHU de Nantes, Service de Génétique Médicale, Nantes, France., Trochu E; CHU de Nantes, Service de Génétique Médicale, Nantes, France., Conrad S; CHU de Nantes, Service de Génétique Médicale, Nantes, France., Vincent M; CHU de Nantes, Service de Génétique Médicale, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Deb W; CHU de Nantes, Service de Génétique Médicale, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Balguerie X; Department of Dermatology, University Hospital Center of Rouen, Rouen, France., Barbarot S; CHU de Nantes, Department of Dermatology, Nantes, France., Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France., Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Bursztejn AC; Dermatology department, hôpital Brabois, Vandœuvre-Lès, Vandœuvre-lès-Nancy, France., Carmignac V; Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Genetique des Anomalies du Développement, Université de Bourgogne Franche-Comte, Dijon, France., Datta AN; Department of Pediatric Neurology and Developmental Medicine, University of Basel Children's Hospital (UKBB), Basel, Switzerland., Delignières A; CH Auray-Vannes, Hôpital Bretagne Atlantique, Service de Pediatrie, Vannes, France., Faivre L; Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Genetique des Anomalies du Développement, Université de Bourgogne Franche-Comte, Dijon, France., Gardie B; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.; Ecole Pratique des Hautes Etudes, PSL Research University, Paris, France., Guéant JL; INSERM, UMR 1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France., Kuentz P; Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Genetique des Anomalies du Développement, Université de Bourgogne Franche-Comte, Dijon, France., Lenglet M; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.; Ecole Pratique des Hautes Etudes, PSL Research University, Paris, France., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, Brussels, Belgium., Ramaekers V; Center of Autism and Department of Genetics, University Hospital Liege (CHU), Liège, Belgium., Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Si Y; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Thevenon J; Centre de Génétique, Hôpital Couple-Enfant, CHU de Grenoble-Alpes, La Tronche, France., Vabres P; Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Genetique des Anomalies du Développement, Université de Bourgogne Franche-Comte, Dijon, France., Van Maldergem L; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.; Integrative and Cognitive Neurosciences Research Unit EA481, University of Franche-Comté, Besançon, France., Wand D; Department Medical Genetic and Pathology, University Hospital of Basel (USB), Basel, Switzerland., Wiedemann A; INSERM, UMR 1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France., Cariou B; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Redon R; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Lamazière A; Laboratory of Mass Spectrometry, INSERM ERL 1157, CNRS UMR 7203 LBM, Sorbonne Universités-UPMC, CHU Saint-Antoine, Paris, France., Bézieau S; CHU de Nantes, Service de Génétique Médicale, Nantes, France.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France., Feillet F; INSERM, UMR 1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France., Isidor B; CHU de Nantes, Service de Génétique Médicale, Nantes, France. bertrand.isidor@chu-nantes.fr.; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France. bertrand.isidor@chu-nantes.fr.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2025-2035. Date of Electronic Publication: 2019 Feb 06.
Autor:
Sloboda N; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Sorlin A; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Valduga M; Genetics Laboratory, CHRU Nancy, Nancy, France., Beri-Dexheimer M; Genetics Laboratory, CHRU Nancy, Nancy, France., Bilbault C; Infantile Medicine Department (Neuropediatrics), Children Hospital, CHRU Nancy, Nancy, France., Fouyssac F; Infantile Medicine Department (Hematopediatrics), Children Hospital, CHRU Nancy, Nancy, France., Becker A; Genetics Laboratory, CHRU Nancy, Nancy, France., Lambert L; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Bonnet C; Genetics Laboratory, CHRU Nancy, Nancy, France., Leheup B; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France.
Publikováno v:
Frontiers in immunology [Front Immunol] 2019 Aug 16; Vol. 10, pp. 1871. Date of Electronic Publication: 2019 Aug 16 (Print Publication: 2019).
Autor:
Sloboda N; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France., Wiedemann A; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France., Merten M; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France; Biochemistry and Molecular Biology Laboratory (Nutrition, Metabolism), CHRU de Nancy, Nancy, France., Alqahtani A; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France., Jeannesson E; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France; Biochemistry and Molecular Biology Laboratory (Nutrition, Metabolism), CHRU de Nancy, Nancy, France., Blum A; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; Radiology Unit Guilloz, University Hospital, Hôpital Central, Nancy, France., Henn-Ménétré S; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; Pharmacy Unit, University Hospital, CHU Brabois, Vandoeuvre les Nancy, France., Guéant JL; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France; Biochemistry and Molecular Biology Laboratory (Nutrition, Metabolism), CHRU de Nancy, Nancy, France., Renard E; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France., Feillet F; Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France. Electronic address: f.feillet@chru-nancy.fr.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2019 Jul; Vol. 127 (3), pp. 184-190. Date of Electronic Publication: 2019 Jun 19.
Autor:
Bhatti, Ibrahim Ahmad1, Saqib, Maleeha1, Rehman, Ibad ur1 sondur.suhas@gmail.com, Amjed, Saman1, Hashim, Hashim Talib1, Butt, Arsalan Ahmed1
Publikováno v:
Clinical Medicine & Research. Jun2024, Vol. 22 Issue 2, p107-111. 5p.
Autor:
Shu, Baolian1 (AUTHOR), Wu, Youxing1 (AUTHOR), Wang, Xiaoyang1 (AUTHOR), Hu, Jianlan1 (AUTHOR), Zhang, Danxia1 (AUTHOR), Gong, Xianghao2 (AUTHOR), He, Saiqi3 (AUTHOR), Xie, Yangzhi4 (AUTHOR), Chen, Xuan4 (AUTHOR), Gui, Ruohu1 (AUTHOR) 18075873080@163.com
Publikováno v:
Pharmacognosy Magazine. Jun2024, Vol. 20 Issue 2, p676-685. 10p.