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pro vyhledávání: '"Bichell TJ"'
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Autor:
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU, Gentile, Jennifer K, Tan, Wen-Hann, Horowitz, Lucia T, Bacino, Carlos A, Skinner, Steven A, Barbieri-Welge, Rene
Publikováno v:
Journal of Developmental & Behavioral Pediatrics; 2010 Sep, Vol. 31 Issue 7, p592-601, 10p
Autor:
Pfalzer AC; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.; COMBINEDBrain, 1510 Old Hickory Boulevard, Brentwood, TN 37027, USA., Ivers B; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA., Haynam A; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA., Drake B; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA., Koolen DA; Radboud University Medical Center, Nijmegen, the Netherlands., Kasri NN; Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BBA; Radboud University Medical Center, Nijmegen, the Netherlands., Mefford HC; St Jude Children's Research Hospital, Memphis, TN, USA., Morgan A; Murdoch Children's Research Institute, Parkville, VIC, Australia., Bichell TJ; COMBINEDBrain, Brentwood, TN, USA., Simon E; COMBINEDBrain, Brentwood, TN, USA., Terala A; COMBINEDBrain, Brentwood, TN, USA., Myers KA; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Point A; Koolen-de Vries Syndrome Foundation, Wilmington, NC, USA.
Publikováno v:
Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Jul 28; Vol. 5, pp. 26330040241265414. Date of Electronic Publication: 2024 Jul 28 (Print Publication: 2024).
Autor:
Tjeertes J; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland. jorrit.tjeertes@roche.com., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Bichell TJ; COMBINEDBrain, Brentwood, TN, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Dysmorphology/Genetics, Rady Children's Hospital, San Diego, CA, USA., Bustamante M; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Crean R; Ionis Pharmaceuticals Inc, Carlsbad, CA, USA., Jeste S; Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine of USC, Los Angeles, CA, USA., Komorowski RW; Ionis Pharmaceuticals Inc, Carlsbad, CA, USA.; Biogen, Cambridge, MA, USA., Krishnan ML; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Miller MT; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Nobbs D; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Ochoa-Lubinoff C; Departments of Pediatrics, Division of Developmental-Behavioral Pediatrics, Rush University Medical Center, Chicago, IL, USA., Parkerson KA; Biogen, Cambridge, MA, USA., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Sadhwani A; Department of Psychiatry and Behavioral Services, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Shen MD; Carolina Institute for Developmental Disabilities & UNC Neuroscience Center, University of North Carolina, Chapel Hill, NC, USA., Squassante L; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Vincenzi B; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Wheeler AC; Carolina Institute for Developmental Disabilities, Carrboro, NC, USA.; RTI International, Durham, NC, USA., Hipp JF; F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland., Berry-Kravis E; Departments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush University Medical Center, 1725 W Harrison St, Suite 718, Chicago, IL, 60612, USA. Elizabeth_Berry-Kravis@rush.edu.
Publikováno v:
Journal of neurodevelopmental disorders [J Neurodev Disord] 2023 Jul 26; Vol. 15 (1), pp. 22. Date of Electronic Publication: 2023 Jul 26.
Autor:
Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Thalwitzer KM; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ali R; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Stewart S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Steinberg J; STXBP1 Foundation, Apex, Holly Springs, North Carolina, USA., Goss J; STXBP1 Foundation, Apex, Holly Springs, North Carolina, USA., Pfalzer AC; Vanderbilt University, Nashville, Tennessee, USA., Horning KJ; Vanderbilt University, Nashville, Tennessee, USA.; COMBINEDBrain, Brentwood, Tennessee, USA., Weitzel N; Vanderbilt University, Nashville, Tennessee, USA., Corey S; Vanderbilt University, Nashville, Tennessee, USA., Conway L; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Rigby CS; STXBP1 Foundation, Apex, Holly Springs, North Carolina, USA., Bichell TJ; Vanderbilt University, Nashville, Tennessee, USA.; COMBINEDBrain, Brentwood, Tennessee, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Publikováno v:
Epilepsia open [Epilepsia Open] 2023 Jun; Vol. 8 (2), pp. 320-333. Date of Electronic Publication: 2023 Apr 27.
Autor:
Kalvakuntla S; Medical School, University of Texas Southwestern Medical Center, Dallas, TX, United States., Lee M; Peter O'Donnell Jr. School of Public Health, University of Texas Southwestern Medical Center, Dallas, TX, United States., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY, United States., Demarest S; Department of Pediatrics and Neurology, University of Colorado School of Medicine, Precision Medicine Institute, Children's Hospital Colorado, Aurora, CO, United States., Freed A; SLC6A1 Connect, Dallas, TX, United States., Horning KJ; COMBINEDBrain, Nashville, TN, United States., Bichell TJ; COMBINEDBrain, Nashville, TN, United States., Iannaccone ST; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Publikováno v:
Frontiers in neuroscience [Front Neurosci] 2023 Feb 21; Vol. 17, pp. 1024388. Date of Electronic Publication: 2023 Feb 21 (Print Publication: 2023).
Autor:
Pepe G; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Capocci L; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Marracino F; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Realini N; Analytical Chemistry Lab, Fondazione Istituto Italiano di Tecnologia, Via Morego 30, 16163 Genoa, Italy., Lenzi P; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via Roma 55, 56126 Pisa, Italy., Martinello K; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Bovier TF; Research Institute on Terrestrial Ecosystems (IRET), UOS Naples-CNR, Via Pietro Castellino 111, 80131 Naples, Italy; Department of Pediatrics Columbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA; Center for Host-Pathogen Interaction, Columbia University Vagelos College of Physicians and Surgeons, New York 10032, NY, USA., Bichell TJ; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37240, USA., Scarselli P; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Di Cicco C; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Bowman AB; School of Health Sciences, Purdue University, West Lafayette, IN 47907-2051, USA., Digilio FA; Research Institute on Terrestrial Ecosystems (IRET), UOS Naples-CNR, Via Pietro Castellino 111, 80131 Naples, Italy., Fucile S; IRCCS Neuromed, Pozzilli (IS) 86077, Italy; Department of Physiology and Pharmacology, Sapienza Rome University, Rome 00185, Italy., Fornai F; IRCCS Neuromed, Pozzilli (IS) 86077, Italy; Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via Roma 55, 56126 Pisa, Italy., Armirotti A; Analytical Chemistry Lab, Fondazione Istituto Italiano di Tecnologia, Via Morego 30, 16163 Genoa, Italy., Parlato R; Division for Neurodegenerative Diseases, Department of Neurology, Mannheim Center for Translational Neuroscience, Medical Faculty Mannheim Heidelberg University, Mannheim 68167, Germany., Di Pardo A; IRCCS Neuromed, Pozzilli (IS) 86077, Italy., Maglione V; IRCCS Neuromed, Pozzilli (IS) 86077, Italy. Electronic address: vittorio.maglione@neuromed.it.
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2023 Jan 04; Vol. 31 (1), pp. 282-299. Date of Electronic Publication: 2022 Sep 16.
Autor:
Willgoss T; Roche Products Limited, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK. tom.willgoss@roche.com., Cassater D; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland., Connor S; Roche Products Limited, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK., Krishnan ML; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland., Miller MT; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland., Dias-Barbosa C; Evidera, Hammersmith, London, UK., Phillips D; Division of Physical Therapy, School of Medicine, University of North Carolina, Chapel Hill, NC, USA., McCormack J; Evidera, Patient-Centered Research, Bethesda, MD, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA., Burdine RD; Department of Molecular Biology, Princeton University, Princeton, NJ, USA., Claridge S; Foundation for Angelman Syndrome Research (FAST), Downers Grove, IL, USA., Bichell TJ; Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, Nashville, TN, USA.
Publikováno v:
Child psychiatry and human development [Child Psychiatry Hum Dev] 2021 Aug; Vol. 52 (4), pp. 654-668.
Autor:
Han J; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California at Irvine, 101 The City Drive South, Orange, CA, 92868, USA., Bichell TJ; Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, Nashville, TN, USA., Golden S; Division of Genetics and Metabolism, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Anselm I; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Waisbren S; Division of Genetics and Metabolism, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Peters SU; Department of Pediatrics, Vanderbilt University, Vanderbilt Kennedy Center for Research on Human Development, Nashville, TN, USA., Bird LM; Department of Pediatrics, University of California, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California at Irvine, 101 The City Drive South, Orange, CA, 92868, USA. vkimonis@uci.edu.; Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders, Nashville, TN, USA. vkimonis@uci.edu.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Oct 22; Vol. 14 (1), pp. 232. Date of Electronic Publication: 2019 Oct 22.
Autor:
Delahanty RJ; Division of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Department of Human Genetics, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Zhang Y; Division of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Bichell TJ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Shen W; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Verdier K; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Macdonald RL; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Xu L; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Boyd K; Pathology Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Williams J; Vanderbilt Electron Microscopy Core, Vanderbilt University Medical Center, Nashville, TN 37212, USA., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA; Vanderbilt Brain Institute, Vanderbilt University Medical Center, Nashville, TN 37212, USA. Electronic address: jingqiong.kang@vanderbilt.edu.
Publikováno v:
Cell reports [Cell Rep] 2016 Dec 20; Vol. 17 (12), pp. 3115-3124.