MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
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| Title: | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. |
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| Authors: | Smol T; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; University of Lille, EA 7364-RADEME, Lille, France., Petit F; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Piton A; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Sanlaville D; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Afenjar A; Service de Génétique, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France., Baker S; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj EJ; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bonneau D; Service de Génétique, CHU d'Angers, Angers, France., Boudry-Labis E; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Bouquillon S; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Boute-Benejean O; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Caumes R; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Colson C; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Coubes C; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Coutton C; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Devillard F; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Dieux-Coeslier A; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Doco-Fenzy M; Service de Génétique, EA3801, SFR-CAP Santé, CHU de Reims, Reims, France., Ewans LJ; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia., Faivre L; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement, CHU Dijon, Dijon, France.; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Field M; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia., Fournier C; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Francannet C; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Genevieve D; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Giurgea I; Service de Génétique, Hôpital Trousseau, AP-HP, Paris, France., Goldenberg A; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Green AK; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Guerrot AM; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Heron D; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Isidor B; Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France., Keena BA; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock BL; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kuentz P; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France., Lapi E; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy., Le Meur N; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Li D; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Marey I; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Nava C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Nesbitt A; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nicolas G; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Roche-Lestienne C; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Roscioli T; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia., Satre V; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Santani A; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Stefanova M; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Steinwall Larsen S; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden., Saugier-Veber P; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France., Picker-Minh S; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Thuillier C; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Verloes A; Unité Fonctionnelle de Génétique Clinique, Hôpital Robert Debré, AP-HP, Paris, France., Vieville G; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France., Wenzel M; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Willems M; Département de Génétique Médicale, CHU Montpellier, Montpellier, France., Whalen S; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Ziegler A; Service de Génétique, CHU d'Angers, Angers, France., Manouvrier-Hanu S; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Gerard B; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ghoumid J; University of Lille, EA 7364-RADEME, Lille, France. jamal.ghoumid@chru-lille.fr.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France. jamal.ghoumid@chru-lille.fr. |
| Source: | Neurogenetics [Neurogenetics] 2018 May; Vol. 19 (2), pp. 93-103. Date of Electronic Publication: 2018 Mar 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29511999 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; University of Lille, EA 7364-RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; Service de Génétique, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Afenjar+A%22">Afenjar A</searchLink>; Service de Génétique, Hôpital d'Enfants Armand-Trousseau, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baker+S%22">Baker S</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bedoukian+EC%22">Bedoukian EC</searchLink>; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Service de Génétique, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Boudry-Labis+E%22">Boudry-Labis E</searchLink>; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Bouquillon+S%22">Bouquillon S</searchLink>; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Boute-Benejean+O%22">Boute-Benejean O</searchLink>; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Caumes+R%22">Caumes R</searchLink>; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Service de Génétique, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Colson+C%22">Colson C</searchLink>; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Coubes+C%22">Coubes C</searchLink>; Département de Génétique Médicale, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Coutton+C%22">Coutton C</searchLink>; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Devillard+F%22">Devillard F</searchLink>; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Dieux-Coeslier+A%22">Dieux-Coeslier A</searchLink>; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Doco-Fenzy+M%22">Doco-Fenzy M</searchLink>; Service de Génétique, EA3801, SFR-CAP Santé, CHU de Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Ewans+LJ%22">Ewans LJ</searchLink>; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement, CHU Dijon, Dijon, France.; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Fassi+E%22">Fassi E</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Field+M%22">Field M</searchLink>; The Genetics of Learning Disability Service, Waratah, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Fournier+C%22">Fournier C</searchLink>; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Francannet+C%22">Francannet C</searchLink>; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Genevieve+D%22">Genevieve D</searchLink>; Département de Génétique Médicale, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Giurgea+I%22">Giurgea I</searchLink>; Service de Génétique, Hôpital Trousseau, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Green+AK%22">Green AK</searchLink>; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, Unité de Génétique Clinique, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Keena+BA%22">Keena BA</searchLink>; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Krock+BL%22">Krock BL</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kuentz+P%22">Kuentz P</searchLink>; Equipe GAD, UMR INSERM 1231, Université de Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Lapi+E%22">Lapi E</searchLink>; Medical Genetics Unit, Anna Meyer Children's University Hospital, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Le+Meur+N%22">Le Meur N</searchLink>; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Service de Génétique, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Marey+I%22">Marey I</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nesbitt+A%22">Nesbitt A</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Roche-Lestienne+C%22">Roche-Lestienne C</searchLink>; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; St Vincent's Clinical School, University of New South Wales, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Satre+V%22">Satre V</searchLink>; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Santani+A%22">Santani A</searchLink>; Department of Pathology Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Stefanova+M%22">Stefanova M</searchLink>; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Steinwall+Larsen+S%22">Steinwall Larsen S</searchLink>; Department of Clinical Genetics, University Hospital Linköping, Linköping, Sweden.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Service de Génétique et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, CHU de Rouen, Inserm et Université de Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Picker-Minh+S%22">Picker-Minh S</searchLink>; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Thuillier+C%22">Thuillier C</searchLink>; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Unité Fonctionnelle de Génétique Clinique, Hôpital Robert Debré, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vieville+G%22">Vieville G</searchLink>; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Wenzel+M%22">Wenzel M</searchLink>; Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Département de Génétique Médicale, CHU Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Whalen+S%22">Whalen S</searchLink>; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Zarate+YA%22">Zarate YA</searchLink>; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Service de Génétique, CHU d'Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Manouvrier-Hanu+S%22">Manouvrier-Hanu S</searchLink>; University of Lille, EA 7364-RADEME, Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France.<br /><searchLink fieldCode="AU" term="%22Kalscheuer+VM%22">Kalscheuer VM</searchLink>; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Gerard+B%22">Gerard B</searchLink>; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Ghoumid+J%22">Ghoumid J</searchLink>; University of Lille, EA 7364-RADEME, Lille, France. jamal.ghoumid@chru-lille.fr.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, avenue Eugène Avinée, Lille, France. jamal.ghoumid@chru-lille.fr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2018 May; Vol. 19 (2), pp. 93-103. <i>Date of Electronic Publication: </i>2018 Mar 06. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE |
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