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검색어 : 통합검색[Mandel Robert]

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  • 471
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
    Bronicki, Lucas M; Redin, Claire; Drunat, Severine; Piton, Amé lie; Lyons, Michael; Passemard, Sandrine; Baumann, Clarisse; Faivre, Laurence; Thevenon, Julien; Riviè re, Jean-Baptiste; Isidor, Bertrand; Gan, Grace; Francannet, Christine; Willems, Marjolaine; Gunel, Murat; Jones, Julie R; Gleeson, Joseph G; Mandel, Jean-Louis; Stevenson, Roger E; Friez, Michael J; Aylsworth, Arthur S; Greenwood Genetic Center, Greenwood, SC, USA; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France; Department of Translational Medicine and Neurogenetics, IGBMC, CNRS UMR 7104, INSERM U964, Strasbourg University, Strasbourg, France; Laboratoire de diagnostic gé né tique, Faculty of Medicine and CHU Strasbourg, Strasbourg, France; Greenwood Genetic Center, Greenwood, SC, USA; Department of Genetics and INSERM U1141, Robert Debré Hospital, Paris, France; Department of Genetics, Robert Debré Hospital, Paris, France; Fé dé ration Hospitalo- Universitaire Mé decine Translationnelle et Anomalies du Dé veloppement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France; Centre de Gé né tique et Centre de Ré fé rence Anomalies du Dé (European journal of human genetics : EJHG, v.23, 2015, pp.1482-1487)
  • 472
    <i>Capitulum</i>: The <i>Compositae Newsletter</i> reloaded
    Bonifacino, J. Mauricio; Mandel, Jennifer R.; Moore, Abigail; Moore, Erika R.; Loeuille, Benoit; Roeble, Lizzie; Laboratorio de Botá nica, Facultad de Agronomí a Universidad de la Repú blica Av. Garzó n 780, Montevideo C.P. 12900 Uruguay; Department of Biological Sciences, Center for Biodiversity Research University of Memphis Memphis Tennessee 38152 U.S.A.; University of Oklahoma, Robert Bebb Herbarium 208 George Lynn Cross Hall, 770 Van Vleet Oval, Norman Oklahoma 73019 U.S.A.; Department of Biological Sciences, Center for Biodiversity Research University of Memphis Memphis Tennessee 38152 U.S.A.; Departamento de Botâ nica, Centro de Biociê ncias Universidade Federal de Pernambuco Avenida Professor Moraes Rego, 1235, Recife Pernambuco 50670‐ 901 Brazil; Naturalis Darwinweg 2, 2333 CR Leiden The Netherlands; (Taxon, v.70, 2021, pp.1156-1156)
  • 473
    Physiological and behavioural responses of grazing dairy cows to an acute metabolic challenge
    Mü ller, Esther; Mü nger, Andreas; Mandel, Roi; Eggerschwiler, Lukas; Schwinn, Ann‐ Catherine; Gross, Josef J.; Bruckmaier, Rupert M.; Hess, H. Dieter; Dohme‐ Meier, Frigga; Agroscope, Posieux, Switzerland; Agroscope, Posieux, Switzerland; Koret School of Veterinary Medicine, Robert H. Smith Faculty of Agriculture, Food and Environment, The Hebrew University, Rehovot, Israel; Agroscope, Posieux, Switzerland; Veterinary Physiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland; Veterinary Physiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland; Veterinary Physiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland; Agroscope, Posieux, Switzerland; Agroscope, Posieux, Switzerland; (Journal of animal physiology and animal nutrition, v.102, 2018, pp.1120-1130)
  • 474
    Examining differences in retention on medication for opioid use disorder: An analysis of Ohio Medicaid data
    Zhang, Pengyue; Tossone, Krystel; Ashmead, Robert; Bickert, Tina; Bailey, Emelie; Doogan, Nathan J.; Mack, Aimee; Schmidt, Schuyler; Bonny, Andrea E.; Department of Biostatistics and Health Data Science, School of Medicine, Indiana University; Center on Trauma and Adversity, Mandel School of Applied Social Sciences, Case Western Reserve University; Ohio Colleges of Medicine Government Resource Center, The Ohio State University Wexner Medical Center; Ohio Colleges of Medicine Government Resource Center, The Ohio State University Wexner Medical Center; Ohio Colleges of Medicine Government Resource Center, The Ohio State University Wexner Medical Center; Ohio Colleges of Medicine Government Resource Center, The Ohio State University Wexner Medical Center; Ohio Colleges of Medicine Government Resource Center, The Ohio State University Wexner Medical Center United; (Journal of substance abuse treatment, v.136, 2022, pp.108686)
  • 475
    The Federal Government's Agricultural Health Study: A Critical Review with Suggested Improvements
    Gray, George M.; Goldstein (Chair), Bernard D.; Bailar, John; Davis, Devra Lee; Delzell, Elizabeth; Dost, Frank; Greenberg, Raymond S.; Hatch, Maureen; Hodgson, Ernest; Ibrahim, Michel A.; Lamb, James; Lavy, Terry; Mandel, Jack; Monson, Richard; Robson, Mark; Shore, Roy; Graham, John D.; ; (Human and ecological risk assessment : HERA, v.6, 2000, pp.47-71)
  • 476
    Evaluation of automatic discrimination between benign and malignant prostate tissue in the era of high precision digital pathology
    Zhdanovich, Yauheniya; Ackermann, Jö rg; Wild, Peter J.; Kö llermann, Jens; Bankov, Katrin; Dö ring, Claudia; Flinner, Nadine; Reis, Henning; Wenzel, Mike; Hö h, Benedikt; Mandel, Philipp; Vogl, Thomas J.; Harter, Patrick; Filipski, Katharina; Koch, Ina; Bernatz, Simon; Institute of Pathology, Ludwig-Maximilians University Munich, Thalkirchner Str. 36, 80337 Munich, Germany; Molecular Bioinformatics Group, Institute of Computer Science, Faculty of Computer Science and Mathematics, Robert-Mayer-Straße 11-15, 60325 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe University Frankfurt am Main, University Hospital Frankfurt, 60590 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe University Frankfurt am Main, University Hospital Frankfurt, 60590 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe University Frankfurt am Main, University Hospital Frankfurt, 60590 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe University Frankfurt am Main, University Hospital Frankfurt, 60590 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe University Frankfurt am Main, University Hospital Frankfurt, 60590 Frankfurt, Germany; Dr. Senckenberg Institute for Pathology, Goethe; (BMC bioinformatics, v.24, 2023, pp.1)
  • 477
    Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
    Mayorandan, Sebene; Meyer, Uta; Gokcay, Gü lden; Segarra, Nuria Garcia; de Baulny, Hé lè ne Ogier; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho de Juan, José Angel; Couce Pico, Maria Luz; Santer, René ; Scholl-Bü rgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh Martin; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, Hannover, D-30625, Germany; Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, Hannover, D-30625, Germany; Istanbul University Faculty of Medicine, Fatih/Capa, Istanbul 34093, Turkey; Reference Center for Inherited Metabolic Diseases, Hô pital Robert Debré , APHP 48 Boulevard Sé rurier, Paris, F-75019, France; Reference Center for Inherited Metabolic Diseases, Hô pital Robert Debré , APHP 48 Boulevard Sé rurier, Paris, F-75019, France; Section of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, 9713 GZ, The Netherlands; Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Ke Karlovu 2, Prague 2 128 08, Czech Republic; Queen Fabiola Children’s University Hospital, Avenue; (Orphanet journal of rare diseases, v.9, 2014, pp.107-107)
  • 478
    Le syndrome ADNP (prot&eacute;ine neuroprotectrice d&eacute;pendante de l’activit&eacute;) li&eacute; &agrave; la d&eacute;ficience intellectuelle et aux troubles du spectre autistique : une revue de la litt&eacute;rature
    Cravero, C.; Gozes, I.; Herman, C.; Verloes, A.; Guinchat, V.; Diaz, L.; Mandel, A.; Levine, J.; Cohen, D.; Service de psychiatrie de l’enfant et de l’adolescent, centre de ré fé rence des maladies rares à expression psychiatrique, Centre mé dico-psychologique pour enfants et adolescents, groupe hospitalier Pitié -Salpê triè re, Assistance publique des Hô pitaux de Paris, Sorbonne université ; Chaire Lily and Avraham Gildor pour l’é tude des facteurs de croissance, Laboratoire Elton pour le dé partement de neuroendocrinologie en gé né tique molé culaire humaine et Biochimie, faculté de mé decine Sackler, super centre Adams pour l’é tude du cerveau, Ecole Sagol de neurosciences, université de Tel Aviv; Association Amis de ADNP France; Service de gé né tique mé dicale et clinique, Hô pital Robert-Debré , Assistance publique des Hô pitaux de Paris Franc; (Neuropsychiatrie de l'enfance et de l'adolescence, v.68, 2020, pp.93-99)
  • 479
    Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
    Schaefer, Elise; Durand, Myriam; Stoetzel, Corinne; Doray, Bé ré nice; Viville, Brigitte; Hellé , Sophie; Danse, Jean-Marc; Hamel, Christian; Bitoun, Pierre; Goldenberg, Alice; Finck, Sonia; Faivre, Laurence; Sigaudy, Sabine; Holder, Muriel; Vincent, Marie-Claire; Marion, Vincent; Bonneau, Dominique; Verloes, Alain; Nisand, Israë l; Mandel, Jean-Louis; Dollfus, Hé lè ne; ; (European journal of medical genetics, v.54, 2011, pp.157-160)
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