학술논문
'학술논문'
에서 검색결과 411건 | 목록
20~30
Academic Journal
Mao, K.; Xu, X.; Zhu, H.; Jin, F.; Wang, X.; Zhang, Y.-B.; Borel, C.; Ansar, M.; Makrythanasis, P.; Antonarakis, S.E.; Jolly, A.; Zhang, H.; Streff, H.; Machol, K.; Lewis, R.A.; Groves, A.K.; Lupski, J.R.; Psoni, S.; Fryssira, H.; Froehlich, C.; Biskup, S.; Iwaszkiewicz, J.; Zoete, V.; Wang, B.; Chen, Q.; Zhang, Q.; Li, Q.; Blanc, X.; Ranza, E.; Ankamreddy, H.; Singh, S.; Chen, P.; Zhao, S.; Paracha, S.A.; Shah, S.F.; Guida, V.; Piceci-Sparascio, F.; De Luca, A.; Melis, D.; Dallapiccola, B.; Digilio, M.C.; Novelli, A.; Magliozzi, M.; Fadda, M.T.; Squeo, G.M.; Merla, G.; Prontera, P.; Mancano, G.; Gori, G.; Mariani, M.; Selicorni, A.; Douzgou, S.; Marlin, S.; Cox, T.C.
In: Nature Communications . (Nature Communications, December 2023, 14(1))
Academic Journal
Mammi P; From the Rehabilitation Medicine Unit, Medical, Geriatric and Rehabilitation Department, University Hospital of Parma, Parma, Italy (PM, ER, AR, DR, AC, SM, EG, RB); and Department of Medicine and Surgery, University of Parma, Parma, Italy (FR).; Ranza E; Rampello A; Ravanetti D; Cavaldonati A; Moretti S; Gobbi E; Rodà F; Brianti R
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8803677 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-7385 (Electronic) Linking ISSN: 08949115 NLM ISO Abbreviation: Am J Phys Med Rehabil Subsets: MEDLINE
Academic Journal
Fokstuen, S.; Makrythanasis, P.; Hammar, E.; Guipponi, M.; Ranza, E.; Varvagiannis, K.; Santoni, F. A.; Albarca-Aguilera, M.; Poleggi, M. E.; Couchepin, F.; Brockmann, C.; Mauron, A.; Hurst, S. A.; Moret, C.; Gehrig, C.; Vannier, A.; Bevillard, J.; Araud, T.; Gimelli, S.; Stathaki, E.; Paoloni-Giacobino, A.; Bottani, A.; Sloan-Bnna, F.; Sizonenko, L. D'Amato; Mostafavi, M.; Hamamy, H.; Nouspikel, T.; Blouin, J. L.; Antonarakis, S. E.
Human Genomics. June 28, 2016, Vol. 10 Issue 1
Academic Journal
Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain.; Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.; Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands.; Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France.; Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa.; Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr.; Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.; Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemistry, Research Center of Chemical Kinomics, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.; Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Louie RJ; Greenwood Genetic Center, Greenwood, SC.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Torti E; GeneDx, Gaithersburg, MD.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; McWalter K; GeneDx, Gaithersburg, MD.; Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia.; Wentzensen IM; GeneDx, Gaithersburg, MD.; Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.; Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France.; Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom.; Monaghan KG; GeneDx, Gaithersburg, MD.; Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY.; Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Retterer K; GeneDx, Gaithersburg, MD.; Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.; Rhodes L; GeneDx, Gaithersburg, MD.; Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Milla SS; Department of Radiology and Imaging Sciences, School of Medicine, Emory University, Atlanta, GA.; Jaykumar AB; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX.; Cobb MH; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX.; Panchagnula S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Duy PQ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Vincent M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Gilbert-Dussardier B; Service de Génétique, CHU Poitiers, Poitiers, France.; Le Guillou X; Service de Génétique, CHU Poitiers, Poitiers, France.; Audebert-Bellanger S; Génétique Médicale, CHRU Brest, Brest, France.; Odent S; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France.; Schmitt S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Boisseau P; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Toutain A; Unité de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, France; Unité Mixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France.; Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Pasquier L; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France.; Redon R; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Friez MJ; Greenwood Genetic Center, Greenwood, SC.; Pérez-Peña H; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom.; Akhtar Rizvi SR; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom.; Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom; Centre for Advanced Research Computing, University College London, London, United Kingdom.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC.; Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Kahle KT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; Department of Cellular and Molecular Physiology, Yale School of Medicine, Yale University, New Haven, CT; NIH-Yale Centers for Mendelian Genomics, Yale School of Medicine, Yale University, New Haven, CT; Yale Stem Cell Center, Yale School of Medicine, Yale University, New Haven, CT. Electronic address: kahle.kristopher@mgh.harvard.edu.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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Academic Journal
Ranza E; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Service de Médecine génétique, Hôpitaux Universitaires de Genève, Genève, Switzerland.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Le Gouez M; Service de Pédiatrie, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.; Guimier A; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.; Dunlop NK; Service de Chirurgie Viscérale, Urologique et de Transplantation pédiatrique, Hôpital Universitaire Necker-Enfants Malades (AP-HP et Université de Paris), Paris, France.; Beaudoin S; Service de Chirurgie Viscérale, Urologique et de Transplantation pédiatrique, Hôpital Universitaire Necker-Enfants Malades (AP-HP et Université de Paris), Paris, France.; Malan V; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Michot C; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Baujat G; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Rio M; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Cormier-Daire V; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.; Abadie V; Service de Pédiatrie, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.; Sarnacki S; Service de Chirurgie Viscérale, Urologique et de Transplantation pédiatrique, Hôpital Universitaire Necker-Enfants Malades (AP-HP et Université de Paris), Paris, France.; Delacourt C; Service de Pneumologie Pédiatrique, Hôpital Necker-Enfants Malades (AP-HP), Paris, France.; Lyonnet S; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.; Attié-Bitach T; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.; Pingault V; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.; Rousseau V; Service de Chirurgie Viscérale, Urologique et de Transplantation pédiatrique, Hôpital Universitaire Necker-Enfants Malades (AP-HP et Université de Paris), Paris, France.; Amiel J; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades (AP-HP centre), Paris, France.; Institut Imagine, Inserm U1163, Université de Paris, Paris, France.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA.; Kurata HT; Department of Pharmacology, Alberta Diabetes Institute, University of Alberta, Edmonton, AB, Canada.; Lamothe SM; Department of Pharmacology, Alberta Diabetes Institute, University of Alberta, Edmonton, AB, Canada.; Maghera J; Department of Pharmacology, Alberta Diabetes Institute, University of Alberta, Edmonton, AB, Canada.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Atallah I; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Bar-Yosef O; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Bilan F; CHU de Poitiers, Service de Génétique, EA3808 NEUVACOD, Poitiers, France.; Bjorgo K; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Van Bogaert P; CHU d'Angers, Service de Pédiatrie, EA3808 NEUVACOD, Angers, France.; Bolkier Y; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Cardiology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.; Burrage LC; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Christ BU; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, SA, South Africa.; Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Dickson P; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, SA, South Africa.; Dubourg C; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France.; Eliyahu A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Danek Gertner Insitute of Human Genetics, Sheba Medical Center, Tel-Hahsomer, Israel.; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.; Emrick L; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Engleman K; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Gonfiantini MV; Rare Diseases and Medical Genetic Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; Good JM; Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland.; Kalser J; Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland.; Kloeckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lachmeijer G; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Macchiaiolo M; Rare Diseases and Medical Genetic Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.; Odent S; Service de Génétique Clinique, Centre de référence 'Maladies Rares' Anomalies du développement CLAD-Ouest, Hôpital SUD, Échirolles, France.; O'Heir E; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ortiz-Gonzalez X; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Pacio-Miguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Pena L; Cincinnati Children's Hospital and Medical Center Cincinnati, Cincinnati, OH, USA.; University of Cincinnati College of Medicine Cincinnati, Cincinnati, OH, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Roulet-Perez E; Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland.; Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, Israel.; Skraban C; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Superti-Furga A; Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland.; Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; van Jaabrsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Vincent M; Service de Génétique Médicale, CHU Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, Nantes, France.; Wang HG; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.; Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.; Rush E; The Children's Mercy Hospital, Kansas City, MO, USA.; Department of Pediatrics University of Missouri-Kansas City, Kansas City, MO, USA.; Department of Internal Medicine, University of Kansas Medical Center, Kansas City, MO, USA.; Pitt GS; Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY, USA.; Au PYB; Alberta Children's Hospital Research Institute, Department of Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, USA. vandana.shashi@duke.edu.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Meuwissen M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Verstraeten A; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Bastiaansen M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Mateiu L; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Nemegeer M; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Meester JAN; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Afenjar A; Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.; Amaral M; HudsonAlpha Institute for Biotechnology, Huntsville, AL.; Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.; Barnett S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.; Barth M; Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.; Asselbergh B; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium.; Spaas K; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium.; Heeman B; Department of Biomedical Sciences, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, University of Antwerp, Antwerp, Belgium; Applied and Translational Neurogenomics, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Bassetti J; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY.; Blackburn P; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN.; Schaer M; Autism Brain & Behavior Laboratory, Department Psychiatry, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, Switzerland; Ludwig Institute for Cancer Research, Department of Fundamental Oncology, Faculty of Biology and Medicine, Lausanne University, Epalinges, Lausanne, Switzerland.; Casas K; Medical Genetics, Sanford Broadway Clinic, Fargo, ND.; Courtin T; Department of Genetics, AP-HP, La Pitié-Salpêtrière Hospital, Sorbonne Université, Paris.; Doummar D; Neuropédiatrie, AP-HP, Hôpital d'enfants Armand Trousseau, Sorbonne Université, Paris.; Guerry F; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Keren B; Department of Genetics, AP-HP, La Pitié-Salpêtrière Hospital, Sorbonne Université, Paris.; Pappas J; NYU Langone Medical Center, New York, NY.; Rabin R; NYU Langone Medical Center, New York, NY.; Begtrup A; GeneDx, Gaithersburg, MD.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO.; Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Wagner M; Institute of Human Genetics, Technical University München, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Ziegler A; Biochemistry and Genetics Department, University Hospital of Angers, Angers, France.; Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France.; Gerard B; Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg, France.; De Bie CI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Abbot MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, MA.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland. Electronic address: stylianos.antonarakis@medigenome.ch.; Loeys B; Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital, University of Antwerp, Edegem, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: bart.loeys@uantwerpen.be.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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