학술논문
전자자료 공정이용 안내
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공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
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- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
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- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
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'학술논문'
에서 검색결과 16건 | 목록
1~20
Academic Journal
Academic Journal
Academic Journal
Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Gogate N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hall PI; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Pan H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Pham K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; German R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Gomez V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Jellinek-Russo E; School of Psychology, University of Houston, Houston, TX, USA.; Storch EA; Department of Psychiatry, Baylor College of Medicine, Houston, TX, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Dierick HA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Phillips JA; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Cassini T; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pruthi S; Department of Pediatrics, Pediatric Radiology, Vanderbilt University Medical Center, Nashville, TN, USA.; Chen HC; Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Center for Quantitative Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jennifer.posey@bcm.edu.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Electronic address: michael.wangler@bcm.edu.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Academic Journal
Segal MM; SimulConsult Inc, Chestnut Hill, MA, United States. medicalgenomics2025@simulconsult.com.; McEntagart M; St George's University NHS Foundation Trust, London, UK.; Deng AT; Guy's & St Thomas's NHS Foundation Trust, London, UK.; Haworth A; Congenica, Cambridge, UK.; King B; Congenica, Cambridge, UK.; Rogers A; Congenica, Cambridge, UK.; Filby J; Congenica, Cambridge, UK.; Short J; St George's University NHS Foundation Trust, London, UK.; Hash MG; Vanderbilt University Medical Center, Nashville, TN, United States.; Rives LC; Vanderbilt University Medical Center, Nashville, TN, United States.; Ezell KM; Vanderbilt University Medical Center, Nashville, TN, United States.; Phillips JA 3rd; Vanderbilt University Medical Center, Nashville, TN, United States.
Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Academic Journal
Stewart R; Vanderbilt University School of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Bell DS; Department of Pediatrics, Program for Children With Medical Complexity, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; McMinn A; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Paddu N; Department of Internal Medicine, Maimonides Medical Center, Brooklyn, New York, USA.; Srivastava G; Division of Diabetes, Endocrinology & Metabolism, Department of Pediatrics and Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Ladha FA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Koziura M; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Pruthi S; Department of Pediatrics, Pediatric Radiology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Richard G; GeneDx, LLC, Gaithersburg, Maryland, USA.; Sheedy CB; GeneDx, LLC, Gaithersburg, Maryland, USA.; Cassini T; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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
Academic Journal
Tinker RJ; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Smith LM; Vanderbilt Eye Institute (L.M.S., K.M.J.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Bastarache LA; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA; Department of Biomedical Informatics (L.A.B.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Ezell KM; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Furuta Y; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Hamid R; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cogan JD; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Vanderbilt Eye Institute, Division of Medical Genetics and Genomic Medicine (R.J.T., L.A.B., KM.E., Y.F., R.H., J.D.C., J.A.P.), Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Joos KM; Vanderbilt Eye Institute (L.M.S., K.M.J.), Vanderbilt University Medical Center, Nashville, Tennessee, USA; Department of Biomedical Engineering (K.M.J.), Vanderbilt University, Nashville, Tennessee, USA. Electronic address: karen.joos@vumc.org.
Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Academic Journal
Furuta Y; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Ezell KM; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Hamid R; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cogan JD; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cassini TA; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Rives L; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; McMinn A; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Shah S; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Peltier AC; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Layfield S; Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Kerkhof J; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Rzasa J; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Sadikovic B; Molecular Genetics Laboratory, Division of Molecular Diagnostics, London Health Sciences, London, Canada.; Al Mamun A; Department of Biomedical Data Science, Meharry School of Applied Computational Sciences, Nashville, Tennessee, USA.; Sheehan JH; Division of Infectious Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.; Moth CW; Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA.; Meiler J; Department of Chemistry, Pharmacology, and Biomedical Informatics, Center for Structural Biology and Institute of Chemical Biology, Vanderbilt University, Nashville, Tennessee, USA.; Vawter-Lee M; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Mendoza-Sengco PM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Pediatric Rehabilitation Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Holzen JB; Tennessee Pediatrics, Hendersonville, Tennessee, USA.; Pruthi S; Department of Radiology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Tinker RJ; Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Academic Journal
Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA. yutaka.furuta@vumc.org.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA. yutaka.furuta@vumc.org.; Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.; Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37232, USA.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Gulsevin A; Department of Chemistry, Center for Structural Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Department of Pharmaceutical Sciences, College of Pharmacy and Health Sciences, Butler University, Indianapolis, Indiana, USA.; Bastarache L; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Neumann S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Kozuria M; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
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
Academic Journal
Brooker SM; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Novelli M; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Coukos R; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Prakash N; Department of Neurology, University of Connecticut School of Medicine, Farmington, CT.; Kamel WA; Department of Neurology, Beni Suef University, Beni Suef, Egypt.; Amengual-Gual M; Department of Pediatrics, Pediatric Neurology, Hospital Universitario Son Espases, Palma, Spain.; Anheim M; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.; Barcia G; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.; Bardakjian T; Department of Neurology, University of Pennsylvania, Philadelphia, PA.; Baur F; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.; Berweck S; Schon Klinik Vogtareuth, Specialist Centre for Paediatric Neurology, Neurorehabilitation, and Epileptology, Vogtareuth, Germany.; Bölsterli BK; Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; University Children's Hospital Zurich, Children's Research Center, Zurich, Switzerland.; Brugger M; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Department of Obstetrics and Gynecology, Technical University of Munich Klinikum Rechts der Isar, München, Germany.; Cassini T; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.; Chatron N; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.; Dafsari HS; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.; de Sainte Agathe JM; Department of Medical Genetics, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.; Ellis CA; Department of Neurology, University of Pennsylvania, Philadelphia, PA.; Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.; Foucard C; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.; Frucht SJ; Department of Neurology, NYU Grossman School of Medicine, New York, NY.; Garcia MC; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.; The University of Sydney, Sydney Medical School, Sydney, New South Wales, Australia.; Gill D; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Guimier A; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.; Heine-Suñer D; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain.; Herkenrath P; Department of Pediatrics, University of Cologne, Köln, Germany.; Hully M; Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Isaias IU; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.; Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany.; Januel L; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Auragen laboratory, Plan France Medecine Génomique, Lyon, France.; Laurencin C; Department of Neurology, Hospices Civils de Lyon, Lyon, France.; Laut T; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada.; Lavillaureix A; CHU de Rennes, Service de Génétique Médicale, Rennes, France.; Lesca G; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Lesieur-Sebellin M; Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.; Magistrelli L; Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.; Marelli C; Montpellier University, Expert Center for Neurogenetic Diseases, Montpellier, France.; Mefford HC; Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Center for Pediatric Neurological Disease Research, Memphis, TN.; Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA.; Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada.; Miller C; Department of Neurology, NYU Grossman School of Medicine, New York, NY.; Mohammad SS; The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Morgante F; City St. George's University of London, Neuroscience and Cell Biology Institute, London, UK.; Nandipati S; Department of Neurology, Kaiser Permanente San Rafael Medical Center, San Rafael, CA.; Opladen T; Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.; Padmanaban M; Department of Neurology, The University of Chicago, Chicago, IL.; Pauni M; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Pezzoli G; Fondazione Grigioni per Il Morbo di Parkinson, Milan, Italy.; Piton A; Department of Translational Medicine and Neurogenetics, University of Strasbourg, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.; Ramond F; Auragen laboratory, Plan France Medecine Génomique, Lyon, France.; Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France.; Riboldi GM; Department of Neurology, NYU Grossman School of Medicine, New York, NY.; Rougeot-Jung C; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France.; Santos-Simarro F; Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain.; Scheffer IE; University of Melbourne, Austin Health and Royal Children's Hospital and Florey Neuroscience Institutes, Melbourne, Victoria, Australia.; Serari N; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.; Stahl CM; Department of Neurology, NYU Grossman School of Medicine, New York, NY.; Kung AS; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA.; Tarongí Sanchez S; Department of Neurology, Hospital Universitario Son Espases, Palma, Spain.; Thauvin-Robinet C; CHU Dijon, Centre de Genetique, Dijon, Spain.; Till M; Department of Genetics, University Hospital Centre Lyon, Lyon, France.; Tranchant C; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.; Troedson C; TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Tropea TF; Department of Neurology, University of Pennsylvania, Philadelphia, PA.; Institute for Neurodegenerative Disorders, New Haven, CT.; Vanakker O; Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium.; Vega P; Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.; Wiese ML; Department of Pediatrics, University of Cologne, Köln, Germany.; Max-PlancInstitute for Biology of Ageing, Köln, Germany.; Wieshmann U; Kingston and Richmond NHS Foundation Trust, Kingston upon Thames, UK.; Williams LJ; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.; Wirth T; Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.; University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.; University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.; Zech M; Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.; Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.; Technical University of Munich, Institute for Advanced Study Garching, Munich, Germany.; Zempel H; University Hospital Cologne, Institute for Human Genetics, Koln, Nordrhein-Westfalen, Germany.; Roze E; Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.; Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Fung VSC; Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.; Carvill G; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Gerard E; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Academic Journal
Greene D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, University of Cambridge, Cambridge, UK.; Mendez R; Department of Medicine, Stanford University, Stanford, CA, USA.; Lees J; Bristol Medical School, University of Bristol, Bristol, United Kingdom.; Barbosa M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bruselles A; Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.; Chiriatti L; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bertini ES; Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bonner DE; Department of Pediatrics, Stanford University, Stanford, CA, USA.; Cassini TA; Vanderbilt University Medical Center, Nashville, TN, USA.; Ezell KM; Vanderbilt University Medical Center, Nashville, TN, USA.; Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA.; Rives L; Vanderbilt University Medical Center, Nashville, TN, USA.; Shashi V; Duke University School of Medicine, Durham, NC, USA.; Spillmann RC; Duke University School of Medicine, Durham, NC, USA.; Wafik M; Guy's and St Thomas' NHS Foundation Trust, London, UK.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Bernstein JA; Department of Pediatrics, Stanford University, Stanford, CA, USA.; Mumford AD; Bristol Medical School, University of Bristol, Bristol, United Kingdom.; NHS South West Genomic Medicine Service Alliance, Bristol, United Kingdom.; Wheeler MT; Department of Medicine, Stanford University, Stanford, CA, USA.; Turro E; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Medicine, University of Cambridge, Cambridge, UK.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Perera BLA; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. blakshitha.perera@vumc.org.; Stewart R; Vanderbilt University School of Medicine, Nashville, TN, USA.; Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Nunley B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; McMinn A; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Krokosky A; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Neumann S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Koziura ME; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Cassini TA; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Gamazon ER; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Phillips Iii JA; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. rory.tinker@vumc.org.
Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE
Academic Journal
Yalcouyé A; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.; Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.; Cissé L; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Rives L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, USA.; Bamba S; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Cogan J; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, USA.; Esoh K; Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.; Diarra S; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, USA.; Ezell KM; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, USA.; Taméga A; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Guinto CO; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Service de Neurologie, Centre Hospitalier Universitaire Point 'G', Bamako, Mali.; Dohrn MF; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.; Hamid R; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, USA.; Fischbeck KH; Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, USA.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA.; Landouré G; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.; Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, USA.; Service de Neurologie, Centre Hospitalier Universitaire Point 'G', Bamako, Mali.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Ezell KM; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.; Pivnick EK; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, University of Tennessee Health Science Center, Memphis, TN, United States.; Rinker D; Department of Biological Sciences, Center for Structural Biology, Vanderbilt University, Nashville, TN, USA.; Sheehan JH; Department of Internal Medicine, Division of Infectious Diseases, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Rives L; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Neumann S; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Corner B; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Koziura M; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Matalon R; Department of Pediatrics, Galveston, Texas 77555-0359, USA. rmatalon@utmb.edu; Surendran S; Rady PL; Quast MJ; Campbell GA; Matalon KM; Tyring SK; Wei J; Peden CS; Ezell EL; Muzyczka N; Mandel RJ
Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print Cited Medium: Print ISSN: 1525-0016 (Print) Linking ISSN: 15250016 NLM ISO Abbreviation: Mol Ther Subsets: MEDLINE
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