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1Academic Journal
المؤلفون: Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz
المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
مصطلحات موضوعية: Exon targeted array CGH, Intragenic copy number variants, CNVs, de novo variants, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M.R. Taylor, Jennifer A. Sullivan, Ayat N. Asleh, Jaba Mitra, Mohamad A. Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A. Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehlivan, Zeynep Coban Akdemir, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Harpreet K. Dibra, Philip J. Byrd, Grant S. Stewart, Bilgen B. Geckinli, Jennifer Posey, Rachel Westman, Chelsy Jungbluth, Jacqueline Eason, Rani Sachdev, Carey-Anne Evans, Gabrielle Lemire, Grace E. VanNoy, Anne O’Donnell-Luria, Frédéric Tran Mau-Them, Aurélien Juven, Juliette Piard, Cheng Yee Nixon, Ying Zhu, Taekjip Ha, Michael F. Buckley, Christel Thauvin, George K. Essien Umanah, Lionel Van Maldergem, James R. Lupski, Tony Roscioli, Valina L. Dawson, Ted M. Dawson, Stylianos E. Antonarakis
المصدر: The American Journal of Human Genetics. 110:499-515
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
المساهمون: Clinical Genetics, Neurosciences
المصدر: Science Translational Medicine, 15(698):eabo3189. American Association for the Advancement of Science
مصطلحات موضوعية: General Medicine
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المؤلفون: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler
المساهمون: Division of Medical Genetics [Seattle], University of Washington [Seattle], Détoxication et réparation tissulaire, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Central South University [Changsha], Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), Center for Integrative Brain Research, Ambry Genetics [Aliso Viejo, CA, USA], China Agricultural University (CAU), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Kennedy Krieger Institute [Baltimore], Institute of Human Genetics [Erlangen, Allemagne], Universität Leipzig, Yale University [New Haven], Oregon Health and Science University [Portland] (OHSU), McGovern Medical School [Houston, Texas], Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Indiana University [South Bend], The University of Texas at San Antonio (UTSA), New York State Psychiatric Institute, Columbia University [New York], Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], CHU Strasbourg, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Stanford University School of Medicine [CA, USA], Memorial Hermann Heart and Vascular Institute [Houston, TX, USA], University of Central Florida [Orlando] (UCF), Department of Pediatrics [Univ California San Diego] (UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC), University of Colorado Anschutz [Aurora], Department of Chemistry and Biochemistry [Bern], University of Bern, Columbia University Irving Medical Center (CUIMC), Signal Processing Lab [Boise - Idaho], Boise State University, University Hospitals Case Medical Center (CLEVELAND - UHCMC), University Hospitals Case Medical Center, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Psychology [University North Carolina Wilmington], University of North Carolina [Wilmington] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Institut d'histoire du temps présent (IHTP), Centre National de la Recherche Scientifique (CNRS), University of Massachusetts Medical School [Worcester] (UMASS), University of Massachusetts System (UMASS), Queen's University [Kingston, Canada], Department of Molecular Genetics [Toronto], University of Toronto, GeneDx [Gaithersburg, MD, USA], Department of Genome Sciences [Seattle] (GS), Department of Pediatrics [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford School of Medicine [Stanford], Stanford University, University of California (UC), COMSATS Institute of Information Technology [Islamabad] (CIIT), Boston Children's Hospital, University of California [Los Angeles] (UCLA), Radboud University Medical Center [Nijmegen], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Psychiatry, Seattle University [Seattle], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Leipzig [Leipzig], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Pediatrics [san Diego], UC San Diego School of Medicine, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of California
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Adolescent, Autism Spectrum Disorder, autism spectrum disorders, Nerve Tissue Proteins, Neuroimaging, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, ZNF292, Intellectual disability, mental disorders, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, Zinc finger, next generation sequencing, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, next-generation sequencing, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Carrier Proteins, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
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المؤلفون: Alison M. Muir, Dianne Laboy Cintrón, Katherine H. Kim, Amber Begtrup, Peter I. Karachunski, Almuth Caliebe, Heather C Mefford, Amy Lacroix, J. Lawrence Merritt, Kirsty McWalter, Angela Sun, Sharon F. Suchy, Barbara K. Burton, Ingo Helbig, René Santer, Joline C. Dalton, Dmitriy Niyazov, Rachel Westman, Ganka Douglas, Leah Fleming, Hiltrud Muhle, Kristin G. Monaghan, Alice Basinger, Katherine L. Helbig, Jenny Thies, Kolja Becker, Manuela Pendziwiat, Can Ficicioglu, Megan T. Cho, Jennifer N. Dines, Francisca Millan, Katie Golden-Grant
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Genotype, Developmental Disabilities, Encephalopathy, developmental delay DNA copy-number variation, 030105 genetics & heredity, Compound heterozygosity, Bioinformatics, Article, 03 medical and health sciences, Epilepsy, Genotype-phenotype distinction, Seizures, Intellectual Disability, Intellectual disability, medicine, Humans, Exome, Family, intragenic deletion, Child, Genetics (clinical), Exome sequencing, Brain Diseases, business.industry, Aryl Hydrocarbon Receptor Nuclear Translocator, Correction, medicine.disease, Phenotype, Pedigree, 3. Good health, 030104 developmental biology, Child, Preschool, epilepsy, Female, business, exome sequencing
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المؤلفون: Milka, Pringsheim, Diana, Mitter, Simone, Schröder, Rita, Warthemann, Kim, Plümacher, Gerhard, Kluger, Martina, Baethmann, Thomas, Bast, Sarah, Braun, Hans-Martin, Büttel, Elizabeth, Conover, Carolina, Courage, Alexandre N, Datta, Angelika, Eger, Theresa A, Grebe, Annette, Hasse-Wittmer, Marion, Heruth, Karen, Höft, Angela M, Kaindl, Stephanie, Karch, Torsten, Kautzky, Georg C, Korenke, Bernd, Kruse, Richard E, Lutz, Heymut, Omran, Steffi, Patzer, Heike, Philippi, Keri, Ramsey, Tina, Rating, Angelika, Rieß, Mareike, Schimmel, Rachel, Westman, Frank-Martin, Zech, Birgit, Zirn, Pauline A, Ulmke, Godwin, Sokpor, Tran, Tuoc, Andreas, Leha, Martin, Staudt, Knut, Brockmann
المساهمون: HUSLAB, Medicum, Department of Medical and Clinical Genetics, University of Helsinki
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: EXPRESSION, DISORDER, Genotype, MIGRATION, Mice, Transgenic, Nerve Tissue Proteins, 3124 Neurology and psychiatry, Intellectual Disability, Rett Syndrome, Animals, Humans, Research Articles, TELENCEPHALON, MUTATIONS, 3112 Neurosciences, Brain, Forkhead Transcription Factors, ASSOCIATION, CORPUS-CALLOSUM, Phenotype, nervous system, Child Development Disorders, Pervasive, OLIGODENDROCYTE, Microcephaly, FORNIX, Female, CONGENITAL VARIANT, Research Article
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المؤلفون: Amber Begtrup, Heather C Mefford, Hiltrud Muhle, Sharon F. Suchy, Barbara K. Burton, Angela Sun, Ingo Helbig, René Santer, J. Lawrence Merritt, Kolja Becker, Megan T. Cho, Katherine L. Helbig, Katie Golden-Grant, Amy Lacroix, Rachel Westman, Alison M. Muir, Ganka Douglas, Dmitriy Niyazov, Kristin G. Monaghan, Jennifer N. Dines, Almuth Caliebe, Jenny Thies, Leah Fleming, Manuela Pendziwiat, Can Ficicioglu, Alice Basinger, Dianne Laboy Cintrón, Katherine H. Kim, Kirsty McWalter, Francisca Millan, Joline C. Dalton, Peter I. Karachunski
المصدر: Genetics in Medicine. 21:1899
مصطلحات موضوعية: Computer science, business.industry, Artificial intelligence, Clinical phenotype, business, computer.software_genre, Spectrum (topology), computer, Genetics (clinical), Natural language processing, Spelling
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المؤلفون: Birgit Zirn, Wolfram Heinritz, Keri Ramsey, Milka Pringsheim, Angelika Rieß, Dörthe Malzahn, Marc Kaulisch, Hans Martin Büttel, Katherine L. Helbig, Johannes R. Lemke, Luis Rohena, Martina Baethmann, G. Christoph Korenke, Frank Martin Zech, Marion Heruth, Isabelle Prehl, Konstanze Hoertnagel, Kim Sarah Plümacher, Knut Brockmann, Carolina Courage, Gerhard Kluger, Stephanie Karch, Karen Höft, Diana Mitter, Barbara Zoll, Julie S. Cohen, Angelika Eger, Rami Abou Jamra, Steffi Patzer, Theresa A. Grebe, Simone Schröder, Ali Fatemi, Dagmar Huhle, Richard E. Lutz, Tina Rating, Elizabeth Conover, Mareike Schimmel, Thomas Bast, Rita Warthemann, Rachel Westman, Natalie Hauser
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Genetic counseling, Protein domain, DNA Mutational Analysis, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Forkhead Transcription Factors, Genetic variation, Rett Syndrome, Missense mutation, Humans, Child, Genetics (clinical), Genetic Association Studies, Genetics, Genetic Variation, Magnetic Resonance Imaging, 3. Good health, FOXG1, 030104 developmental biology, Phenotype, Child, Preschool, Female, 030217 neurology & neurosurgery
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المؤلفون: Colleen M. Kennedy, Xia Zhou, Larry J. Forney, Thomas Ward Osborn, Melanie A. Hansmann, Rachel Westman, Roxana J. Hickey
المصدر: Infection and Immunity. 77:4130-4135
مصطلحات موضوعية: Adult, Adolescent, Immunology, Biology, Microbiology, Vaginal disease, Recurrence, Lactobacillus, medicine, Humans, Candidiasis, Vulvovaginal, Mycosis, Vaginitis, Bacteria, Case-control study, medicine.disease, Commensalism, biology.organism_classification, Cross-Sectional Studies, Infectious Diseases, medicine.anatomical_structure, Case-Control Studies, Vulvitis, Vagina, Female, Parasitology, Fungal and Parasitic Infections, medicine.symptom, Polymorphism, Restriction Fragment Length
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المؤلفون: Holly L. Peay, Rebecca Nagy, Jacqueline Kloos, Laura Conway, Erica Ramos, Rachel Westman, Melissa A. Hicks, Jennifer Fitzpatrick, Erynn S. Gordon, Josh Silver, Carol Walton, Brenda M Finucane, Jaspreet Sekhon-Warren, Catherine A. Reiser
المصدر: Journal of genetic counseling. 24(4)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Canada, Medical psychology, Certification, Students, Medical, Attitude of Health Personnel, Genetic counseling, education, Advisory Committees, MEDLINE, Genetic Counseling, Nursing, Surveys and Questionnaires, Medicine, Humans, Genetics (clinical), Qualitative Research, business.industry, Public health, Professional development, Allied health professions, United States, Education, Medical, Graduate, Evaluation Studies as Topic, Female, business, Qualitative research
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