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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

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第一作者: Marjolein J A Weerts
作者: Marjolein J A Weerts [1] ; Kristina Lanko [2] ; Francisco J Guzmán-Vega [3] ; Adam Jackson [4] ; Reshmi Ramakrishnan [5] ; Kelly J Cardona-Londo?o [6] ; Karla A Pe?a-Guerra [7] ; Yolande van Bever [8] ; Barbara W van Paassen [9] ; Anneke Kievit [10] ; Marjon van Slegtenhorst [11] ; Nicholas M Allen [12] ; Caroline M Kehoe [13] ; Hannah K Robinson [14] ; Lewis Pang [15] ; Selina H Banu [16] ; Mashaya Zaman [17] ; Stephanie Efthymiou [18] ; Henry Houlden [19] ; Irma J?rvel? [20] ; Leena Lauronen [21] ; Tuomo M??tt? [22] ; Isabelle Schrauwen [23] ; Suzanne M Leal [24] ; Claudia A L Ruivenkamp [25] ; Daniela Q C M Barge-Schaapveld [26] ; Cacha M P C D Peeters-Scholte [27] ; Hamid Galehdari [28] ; Neda Mazaheri [29] ; Sanjay M Sisodiya [30] ; Victoria Harrison [31] ; Angela Sun [32] ; Jenny Thies [33] ; Luis Alberto Pedroza [34] ; Yana Lara-Taranchenko [35] ; Ivan K Chinn [36] ; James R Lupski [37] ; Alexandra Garza-Flores [38] ; Jeffery McGlothlin [39] ; Lin Yang [40] ; Shaoping Huang [41] ; Xiaodong Wang [42] ; Tamison Jewett [43] ; Gretchen Rosso [44] ; Xi Lin [45] ; Shehla Mohammed [46] ; J Lawrence Merritt [47] ; Ghayda M Mirzaa [48] ; Andrew E Timms [49] ; Joshua Scheck [50] ; Mariet W Elting ; Abeltje M Polstra ; Lauren Schenck ; Maura R Z Ruzhnikov ; Annalisa Vetro ; Martino Montomoli ; Renzo Guerrini ; Daniel C Koboldt ; Theresa Mihalic Mosher ; Matthew T Pastore ; Kim L McBride ; Jing Peng ; Zou Pan ; Marjolein Willemsen ; Susanne Koning ; Peter D Turnpenny ; Bert B A de Vries ; Christian Gilissen ; Rolph Pfundt ; Melissa Lees ; Stephen R Braddock ; Kara C Klemp ; Fleur Vansenne ; Marielle E van Gijn ; Catherine Quindipan ; Matthew A Deardorff ; J Austin Hamm ; Abbey M Putnam ; Rebecca Baud ; Laurence Walsh ; Sally A Lynch ; Julia Baptista ; Richard E Person ; Kristin G Monaghan ; Amy Crunk ; Jennifer Keller-Ramey ; Adi Reich ; Houda Zghal Elloumi ; Marielle Alders ; Jennifer Kerkhof ; Haley McConkey ; Sadegheh Haghshenas ; Reza Maroofian ; Bekim Sadikovic ; Siddharth Banka ; Stefan T Arold ; Tahsin Stefan Barakat
作者单位: Department of Clinical Genetics, University Medical Center Groningen [1] GeneDx [2] Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital [3] Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital [4] Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre [5] Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust [6] Department of Pediatrics, Division of Medical Genetics, Stanford Medicine [7] Department of Clinical Genetics [8] Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH [9] Department of Clinical Genetics, VU University Medical Center [10] Xiangya Hospital of Central South University [11] Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital [12] East Tennessee Children's Hospital Genetics Center [13] Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute [14] Department of Human Genetics, Radboud university medical center [15] Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the [16] Department of Clinical Neurophysiology, New Children′s Hospital, HUS Diagnostic Center, University [17] Division of Medical Genetics, Department of Pediatrics, SSM Health Cardinal Glennon Children's [18] Department of Paediatrics, National University of Ireland Galway [19] Department of Medical and Molecular Genetics, Indiana University School of Medicine [20] Clinical Genetics [21] Department of Clinical Genetics, Maastricht University Medical Center [22] Wessex Clinical Genetics Service, Princess Anne Hospital [23] Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine [24] Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles [25] Department of Neurology, Leiden University Medical Center [26] Department of Medical Genetics, University of Helsinki [27] Department of Clinical Genetics, Erasmus MC University Medical Center [28] Department of Clinical Genetics, Leiden University Medical Center [29] Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University [30] Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor [31] Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust [32] Amsterdam UMC, Department of Clinical Genetics, Amsterdam Reproduction & Development Research [33] Pediatrics Department, The First Affiliated Hospital of Fujian Medical University [34] Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine [35] Disability Services, Joint Authority for Kainuu [36] King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research [37] Nationwide Children's Hospital [38] Cipher Gene Ltd [39] Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's [40] Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College [41] Center for Integrative Brain Research, Seattle Children's Research Institute [42] Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's [43] Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz [44] Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving [45] Department of Pathology and Laboratory Medicine, Western University [46] Manchester Centre for Genomic Medicine [47] Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology [48] NE Thames Regional Genetics Service [49] Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of [50]
发布时间 2022-03-20
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