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Wyszukujesz frazę ""Rollier, Paul"" wg kryterium: Autor


Tytuł :
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Autorzy :
Guissart, Claire
Latypova, Xenia
Rollier, Paul
Khan, Tahir
Stamberger, Hannah
McWalter, Kirsty
Cho, Megan
Kjaergaard, Susanne
Weckhuysen, Sarah
Lesca, Gaetan
Besnard, Thomas
Ounap, Katrin
Schema, Lynn
Chiocchetti, Andreas
McDonald, Marie
De Bellescize, Julitta
Vincent, Marie
Van Esch, Hilde
Sattler, Shannon
Forghani, Irman
Thiffault, Isabelle
Freitag, Christine
Barbouth, Deborah Sara
Cadieux-Dion, Maxime
Willaert, Rebecca
Guillen Sacoto, Maria
Safina, Nicole
Dubourg, Christèle
Grote, Lauren
Carré, Wilfrid
Saunders, Carol
Pajusalu, Sander
Farrow, Emily
Boland, Anne
Karlowicz, Danielle Hays
Deleuze, Jean-François
Wojcik, Monica
Pressman, Rena
Isidor, Bertrand
Vogels, Annick
Van Paesschen, Wim
Al-Gazali, Lihadh
Al Shamsi, Aisha Mohamed
Claustres, Mireille
Pujol, Aurora
Sanders, Stephan
Rivier, Francois
Leboucq, Nicolas
Cogné, Benjamin
Sasorith, Souphatta
Sanlaville, Damien
Retterer, Kyle
Odent, Sylvie
Katsanis, Nicholas
Bézieau, Stephane
Koenig, Michel
Davis, Erica
Pasquier, Laurent
Küry, Sébastien
Pokaż więcej
Temat :
cerebellar ataxia
neurodevelopmental disorder
dual molecular effects
epilepsy
RORA
intellectual disability
autistic features
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Tytuł :
Le diplôme d'études spécialisées de biologie médicale attire-t-il toujours autant les étudiants en médecine ? Bilan des huit dernières années. (French)
Autorzy :
Cassinari, Kévin
Grunewald, Olivier
Snanoudj-Verber, Sarah
Moulis, Morgane
Rollier, Paul
Barrand, Lionel
Porquet, Dominique
Gueant, Jean-Louis
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Alternatywny tytuł :
2009-2017 report on the attractiveness of laboratory medicine among young doctors. (English)
Źródło :
Annales de Biologie Clinique; mar/avr2018, Vol. 76 Issue 2, p125-130, 6p
Czasopismo naukowe
Tytuł :
Vies de caïds et justice informelle à Lahore (Pakistan). (French)
Autorzy :
Rollier, Paul
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Alternatywny tytuł :
“Underworld Bosses” and Informal Justice in Lahore (Pakistan). (English)
Źródło :
L'Homme: Revue Française d'Anthropologie; jui-dec2016, Issue 219/220, p63-92, 30p
Czasopismo naukowe
Tytuł :
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Autorzy :
Carmignac V; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France. .; MAGEC-Mosaïque Reference Center, Dijon University Hospital, Dijon, France. .
Mignot C; Neuropaediatrics and Development Pathology Department, Trousseau Hospital, AP-HP, Paris, France.; Genetics Department and Reference Center for rare causes of Intellectual Disability, Pitié-Salpêtrière hospital, AP-HP, Paris, France.
Blanchard E; Plateforme IBiSA de Microscopie Electronique, Anatomie et cytologie pathologique, Université et CHRU de Tours, Tours, France.; INSERM U1259 MAVIVH, Université et CHRU de Tours, Tours, France.
Kuentz P; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
Aubriot-Lorton MH; Pathology department, Dijon-Burgundy University Hospital, Dijon, France.
Parker VER; The University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge, UK.
Sorlin A; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Pediatrics and Medical Genetics Department, Dijon-Bourgogne University Hospital, Dijon, France.
Fraitag S; Service d'Anatomie et Cytologie Pathologique, Necker-Enfants Malades Hospital, Paris, France.
Courcet JB; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Pediatrics and Medical Genetics Department, Dijon-Bourgogne University Hospital, Dijon, France.
Duffourd Y; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
Rodriguez D; Genetics Department and Reference Center for rare causes of Intellectual Disability, Pitié-Salpêtrière hospital, AP-HP, Paris, France.
Knox RG; The University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge, UK.
Polubothu S; Paediatric Dermatology, Great Ormond St Hospital for Children NHS Foundation Trust, London, UK.; UCL GOS Institute of Child Health, London, UK.; Mosaicism and Precision Medicine laboratory, Francis Crick Institute, London, UK.
Boland A; National Genotyping Center, Genomic Institute, CEA, Evry, France.
Olaso R; National Genotyping Center, Genomic Institute, CEA, Evry, France.
Delepine M; National Genotyping Center, Genomic Institute, CEA, Evry, France.
Darmency V; Pediatrics and Medical Genetics Department, Dijon-Bourgogne University Hospital, Dijon, France.
Riachi M; UCL GOS Institute of Child Health, London, UK.; Mosaicism and Precision Medicine laboratory, Francis Crick Institute, London, UK.
Quelin C; Clinical Genetics department, Rennes University Hospital, Rennes, France.
Rollier P; Clinical Genetics department, Rennes University Hospital, Rennes, France.
Goujon L; Clinical Genetics department, Rennes University Hospital, Rennes, France.
Grotto S; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
Jacquemont ML; Medical Genetics Unit, CHU La Réunion, Saint-Pierre, France.
Odent S; Clinical Genetics department, Rennes University Hospital, Rennes, France.
Amram D; Clinical Genetics Department, Créteil Hospital, Créteil, France.
Chevarin M; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne University Hospital, Dijon, France.
Vincent-Delorme C; Medical Genetic Department, Jeanne de Flandre Hospital, Lille, France.
Catteau B; Dermatology department, Lille University Hospital, Lille, France.
Guibaud L; Pediatric and Fetal Imaging Department, Hospices Civils de Lyon, Bron, France.
Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France.; Brain Dynamics and Cognition (DYCOG) Team, Lyon Neuroscience Research Centre, Lyon, France.
Keddar M; Cytogenetics Department, Dijon University Hospital, Dijon, France.
Sarret C; Medical genetics department, Pôle Femme et Enfant, Clermont-Ferrand University Hospital-Hôpital d'Estaing, Clermont-Ferrand, France.
Callier P; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Cytogenetics Department, Dijon University Hospital, Dijon, France.
Bessis D; Dermatology Department, Montpellier University Hospital, Montpellier, France.
Geneviève D; Medical Genetics Department, Montpellier University Hospital, Montpellier, France.
Deleuze JF; National Genotyping Center, Genomic Institute, CEA, Evry, France.
Thauvin C; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d'Enfants, Dijon, France.
Semple RK; The University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge, UK.; Center for Cardiovascular Science, University of Edinburgh, Edinburgh, UK.
Philippe C; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.
Rivière JB; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
Kinsler VA; Paediatric Dermatology, Great Ormond St Hospital for Children NHS Foundation Trust, London, UK.; UCL GOS Institute of Child Health, London, UK.; Mosaicism and Precision Medicine laboratory, Francis Crick Institute, London, UK.
Faivre L; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon, France.
Vabres P; INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.; MAGEC-Mosaïque Reference Center, Dijon University Hospital, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France.
Pokaż więcej
Corporate Authors :
PHRC National Mosaïque
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr 08. Date of Electronic Publication: 2021 Apr 08.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
Autorzy :
Malhotra A; Illumina Inc, San Diego, California, USA .
Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Shu L; Maternal and Child Health Hospital of Hunan Province, Changsha, China.
Perrier R; Department of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.
Amlie-Wolf L; Nemours A.I. Dupont Hospital for Children, Wilmington, Delaware, USA.
Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Lygia de Macena Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Colin E; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Stouffs K; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
Scalais E; Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
Serretti A; Department of Biomedical and NeuroMotor Sciences, Bologna University, Bologna, Italy.
Barth M; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Navet B; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Rollier P; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Xi H; Maternal and Child Health Hospital of Hunan Province, Changsha, China.
Wang H; Maternal and Child Health Hospital of Hunan Province, Changsha, China.
Zhang H; Department of Neurology, The Second Xiangya Hospital, Central South University, Hunan, China.
Perry DL; Illumina Inc, San Diego, California, USA.
Ferrarini A; Italian Hospital of Lugano and University of Lugano, Lugano, Switzerland.
Colombo R; Center for the Study of Rare Hereditary Diseases, Catholic University and Policlinico Agostino Gemelli University Hospital, Milan, Italy.
Pepler A; Praxis für Humangenetik, Tuebingen, Germany.; CeGaT GmbH, Tubingen, Baden-Württemberg, Germany.
Schneider A; Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
Tomiwa K; Todaiji Ryoiku Hospital for Children, Kyoto, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University, Yokohama, Kanagawa, Japan.
Miyake N; Department of Human Genetics, Yokohama City University, Yokohama, Kanagawa, Japan.
Taft R; Illumina Inc, San Diego, California, USA.
Mao X; Maternal and Child Health Hospital of Hunan Province, Changsha, China.
Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
Pokaż więcej
Źródło :
Journal of medical genetics [J Med Genet] 2020 Aug 20. Date of Electronic Publication: 2020 Aug 20.
Typ publikacji :
Journal Article
Czasopismo naukowe

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