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Tytuł:
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Autorzy:
Ruault V; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Burger P; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Gradels-Hauguel J; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.
Ruiz N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Afenjar A; Département de Génétique Paris, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, APHP, Sorbonne Université, Paris, France.
Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Alessandri JL; CHU La Réunion, Service de génétique, Saint Denis, France.
Arpin S; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Bendová Š; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Charles P; APHP La Pitié Salpétrière, Paris, France.
Chatron N; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.
Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetic Department, Harvard Medical School, Boston, Massachusetts, USA.
Conrad S; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Daire VC; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Cospain A; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Coubes C; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.; Genetic Department, Inserm 1141 NeuroDiderot, Paris, France.
Doco M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.
Dufour W; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.
Durand B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Engel C; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
Faivre L; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Ferroul F; CHU La Réunion, Service de génétique, Saint Denis, France.
Fradin M; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.; CH Saint Brieuc, Service de Génétique, Saint Brieux, France.
Frenkiel H; Xtraordinaire Association, Paris, France.
Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Garde A; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Gerard B; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Germanaud D; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
Goujon L; Genetic Department, CEA Paris-Saclay, NeuroSpin, Gif-sur-Yvette, France.; Département de Génétique, Centre de référence Déficiences intellectuelles de causes rares, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert-Debré, Paris, France.
Gouronc A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Ginglinger E; Génétique médicale GHRMSA, Hopital Emile Muller, Mulhouse, France.
Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Heron D; APHP Trousseau, Paris, France.
Isidor B; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Marçais NJ; Genetic Department, CHU Rennes, Service de Génétique, CLAD Ouest CRDI, Rennes, France.
Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Koch-Hogrebe M; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Kuentz P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Oncobiologie Génétique Bioinformatique, PC BIO, CHU Besançon, Besançon, France.
Lamure V; Genetic Department, UFR SMBH, Université Sorbonne Paris Nord, Paris, France.
Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de Biologie Médicale et Pathologie, Service de Génétique, Reims, France.; Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Université Paris Cité, Paris, France.
Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Lehman N; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.
Lyonnet S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Laboratoire Embryologie et Génétique des Malformations, Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.
Martin D; Xtraordinaire Association, Paris, France.
Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP Sorbonne Université, Paris, France.
Neuhann TM; Genetic Department, Medizinisch Genetisches Zentrum, Munich, Germany.
Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Nizon M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Petit F; Genetic Department, CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Piton A; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Putoux A; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Rossi M; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.
Sabbagh Q; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France.
Schmetz A; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Steffann J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.; Centre de Génétique et Centre de référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Toutain A; Genetics Department, University Hospital, UMR1253 iBrain INSERM, University of Tours, Tours, France.
Them FTM; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France.
Trimarchi G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Vincent M; Genetic Department, CHU Nantes, Service de Génétique, Nantes, France.
Vlčková M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Willems M; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Yauy K; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Zelinová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Ziegler A; Genetic Department, Service de Génétique, CHU d'Angers, Angers Cedex 9, France.
Chaumette B; Center for Rare Psychiatric Disorders - GHU Paris Psychiatrie et Neurosciences - Paris - France APHP, GHU Sainte Anne, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, Université Paris Cité, INSERM U1266, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.
Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.
Mandel JL; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.; Genetic Department, University of Strasbourg Institute for Advanced Studies (USIAS), Strasbourg, France.
Geneviève D; Genetic Department, Montpellier University, INSERM Unit 1183, Montpellier, France.; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, Montpellier, France.
Pokaż więcej
Corporate Authors:
Xtraordinaire; Xtraordinaire Association, Paris, France.
GENIDA Project; Institute of Genetics and Molecular and Cellular Biology (IGBMC), Université de Strasbourg, INSERM U1258, CNRS UMR7104, Illkirch, France.
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2363.
Typ publikacji:
Journal Article
MeSH Terms:
Attention Deficit Disorder with Hyperactivity*/genetics
Attention Deficit Disorder with Hyperactivity*/therapy
Caregivers*
Child, Preschool ; Humans ; DEAD-box RNA Helicases ; Self Report ; Infant
Czasopismo naukowe
Tytuł:
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Autorzy:
Cafournet C; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Zanin S; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Guimier A; Laboratory of Embryology and Genetics of Human Malformations, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Genomic Medicine Service for Rare Diseases, APHP.CUP, Necker Enfants Malades Hospital, 75015 Paris, France.
Hully M; Pediatric Neurology Department, Necker Enfants Malades Hospital, AP-HP, Institute Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Assouline Z; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
Barcia G; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
de Lonlay P; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Université Paris Cité, INEM-1151, G2M, MetabERN, 75015 Paris, France.
Steffann J; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
Munnich A; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Bonnefont JP; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
Rötig A; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Ruzzenente B; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
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Źródło:
Life (Basel, Switzerland) [Life (Basel)] 2023 Feb 04; Vol. 13 (2). Date of Electronic Publication: 2023 Feb 04.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?
Autorzy:
Laot L; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
Sonigo C; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.; Inserm, Physiologie et Physiopathologie Endocrinienne, Université Paris Saclay, 94276 Le Kremlin-Bicêtre, France.
Nobre J; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
Benachi A; Department of Obstetrics and Gynecology, DMU Santé des Femmes et des Nouveau-nés, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
Dervin T; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
El Moujahed L; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
Mayeur A; Service de Biologie de la Reproduction-CECOS, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
Stoppa-Lyonnet D; Department of Oncology Genetics, Institut Curie, 75005 Paris, France.
Steffann J; Imagine Institute, INSERM UMR1163, Service de Génétique Moléculaire, Groupe Hospitalier Necker-Enfants Malades, Université de Paris-Sorbonne Paris Cité, AP-HP, 75015 Paris, France.
Grynberg M; Department of Reproductive Medicine and Fertility Preservation, Université Paris-Saclay, Assistance Publique Hôpitaux de Paris, Antoine Beclere Hospital, 92140 Clamart, France.
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Źródło:
Cancers [Cancers (Basel)] 2022 Nov 24; Vol. 14 (23). Date of Electronic Publication: 2022 Nov 24.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Tytuł:
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
Autorzy:
Bodemer, C.
Diociaiuti, A.
Hadj‐Rabia, S.
Robert, M.P.
Desguerre, I.
Manière, M.‐C.
Dure‐Molla, M.
De Liso, P.
Federici, M.
Galeotti, A.
Fusco, F.
Fraitag, S.
Demily, C.
Taieb, C.
Valeria Ursini, M.
El Hachem, M.
Steffann, J.
Pokaż więcej
Temat:
X-linked genetic disorders
MEDICAL personnel
SYMPTOMS
CENTRAL nervous system
GENERAL practitioners
Źródło:
Journal of the European Academy of Dermatology & Venereology; Jul2020, Vol. 34 Issue 7, p1415-1424, 10p
Czasopismo naukowe
Tytuł:
Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
Autorzy:
Kuleva, M
Ben Miled, S
Steffann, J
Bonnefont, JP
Rondeau, S
Ville, Y
Munnich, A
Salomon, LJ
Bonnefont, J P
Salomon, L J
Pokaż więcej
Temat:
DIABETES in women
MITOCHONDRIAL DNA
NUCLEAR DNA
PREGNANCY complications
ABORTION
GESTATIONAL diabetes
Źródło:
BJOG: An International Journal of Obstetrics & Gynaecology; Oct2019, Vol. 126 Issue 11, p1372-1379, 8p, 1 Diagram, 3 Charts
Czasopismo naukowe
Tytuł:
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations*.
Autorzy:
Bellon, N.
Hadj‐Rabia, S.
Moulin, F.
Lambe, C.
Lezmi, G.
Charbit‐Henrion, F.
Alby, C.
Le Saché‐de Peufeilhoux, L.
Leclerc‐Mercier, S.
Hadchouel, A.
Steffann, J.
Hovnanian, A.
Lapillonne, A.
Bodemer, C.
Pokaż więcej
Temat:
INFANTS
CUTANEOUS manifestations of general diseases
NUTRITIONAL requirements
GENETIC disorders
DEATH rate
EPIDERMOLYSIS bullosa
Źródło:
British Journal of Dermatology; Mar2021, Vol. 184 Issue 3, p532-537, 6p
Czasopismo naukowe

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