المؤلفون: John M. Graham, Joseph T. Shieh, Alan F. Rope, Philip F Giampietro, Lynne M. Bird, Roberta A Pagon, John C. Carey, Katta M. Girisha, Cathy A. Stevens, David D. Weaver, Margaret P. Adam, William B. Dobyns, Bryan D. Hall, Elaine H. Zackai, Chad R. Haldeman-Englert, Anne C. Tsai, A. Micheil Innes, Marc S. Williams, Ian A. Glass, David A. Stevenson, Kenjiro Kosaki, Beth A. Kozel, Jennifer M. Kalish, Michael J. Bamshad, John J. Mulvihill, Robin D. Clark, Anne Slavotinek, Kim M. Keppler-Noreuil, Anita E. Beck, Małgorzata J.M. Nowaczyk, Cynthia J. Curry, Fowzan S. Alkuraya, Ghayda M. Mirzaa, Timothy C. Cox, Anne Amemiya, Karen W. Gripp, Wen-Hann Tan, Andrew K. Sobering, Yuri A. Zarate, Mary Beth Dinulos, Laurie H. Seaver, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Tiong Yang Tan, Brian H.Y. Chung, Pedro A. Sanchez-Lara

المصدر: Am J Hum Genet

مصطلحات موضوعية: Genetics, Biology, Letter to the Editor, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441c012c2c0d051d05cb4adcd04a6ce5Test
https://pubmed.ncbi.nlm.nih.gov/34478655Test

المؤلفون: Steven D Klein, Jeffrey W. Innis, Ying Yang, Sureni V. Mullegama, Toshihiko Ezashi, Sarah H. Elsea, Stephen R. Williams, Yuchen Tian, Chad R. Haldeman-Englert, Frank J. Probst, Julian A. Martinez-Agosto

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Autism Spectrum Disorder, Science, Induced Pluripotent Stem Cells, Primary Cell Culture, Gene Expression, Stem cells, Biology, Article, Transcriptome, Craniofacial Abnormalities, Neurodevelopmental disorder, Neural Stem Cells, Intellectual Disability, medicine, Genetics, Humans, Abnormalities, Multiple, Epigenetics, RNA-Seq, Autistic Disorder, Induced pluripotent stem cell, Multidisciplinary, Gene Expression Profiling, Cell Differentiation, Mand, medicine.disease, DNA-Binding Proteins, Phenotype, Neurology, Hippo signaling, Autism spectrum disorder, Neurodevelopmental Disorders, Chromosomes, Human, Pair 2, Medicine, Autism, Chromosome Deletion, Neuroscience, Signal Transduction

وصف الملف: application/pdf; application/msword; application/vnd.ms-excel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c22afac552a57a9d37ec14eb48c44eTest
https://resolver.caltech.edu/CaltechAUTHORS:20210528-094921843Test

المؤلفون: Edgard Verdura, Alex MacKenzie, Rolph Pfundt, Tobias B. Haack, Ange Line Bruel, Paulino Gómez-Puertas, Anna C.E. Hurst, Bert B.A. de Vries, Stella A. de Man, Maria Johansson Soller, Bregje W.M. van Bon, Elisabeth Sarrazin, Agustí Rodríguez-Palmero, Stephan Waldmüller, Melanie O’Leary, Anne Sophie Denommé-Pichon, Bitten Schönewolf-Greulich, Joseph T. Shieh, V. A. Bjerregaard, Vahid Bahrambeigi, Malin Kvarnung, Agatha Schlüter, Anne Marie Bisgaard, Ingrid M.B.H. van de Laar, Elisa Giorgio, Lars Feuk, Mieke M. van Haelst, Thomas D. Challman, Ineke van de Burgt, Sulagna Kushary, Simone F. Reiter, David B. Everman, Zeynep Tümer, Giorgia Mandrile, Conny M. A. van Ravenswaaij-Arts, Charles Shaw-Smith, Juliane Hoyer, Chad R. Haldeman-Englert, Lotte Kleinendorst, Bryce A. Mendelsohn, Anna Lindstrand, Christine Coubes, Gea Beunders, Sixto García-Miñaur, Antonio Vitobello, Melissa Maria Boerrigter, Alysia Kern Lovgren, Anya Revah-Politi, Carlos E. Prada, Bertrand Isidor, Elena Repnikova, Stephanie Spranger, Esmée van Drie, Frédéric Tran Mau-Them, Zohra Shad, Ben Pode-Shakked, Aurora Pujol, Christiane Zweier, Bjørn Ivar Haukanes, David Gómez-Andrés, Kathleen A. Leppig, Marta Pacio-Míguez, Motti Shohat, Yuval Landau, Benjamin Cogné, Frances Elmslie, Kimberly A. Aldinger, Anita Rauch, Juliann M. Savatt, Nicolas Gruchy, Sharon Whiting, William B. Dobyns, Thomas J. Dye, Sebastien Moutton, Heidi Thiese, Setareh Moghadasi, Iñigo Marcos-Alcalde, Jenny Morton, Sumit Parikh, María Palomares-Bralo, Stéphanie Arpin, Tracy S. Gertler, Meredith J. Ross, Bernt Popp, Amelie J. Müller, Claudia A. L. Ruivenkamp

المساهمون: Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), CIBER de Enfermedades Raras (CIBERER), Hospital Universitario Germans Trias I Pujol, Vall d'Hebron University Hospital [Barcelona], Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Department of Molecular and Human Genetics (Baylor College of Medicine), Baylor College of Medecine, Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Clinical Genetics, Human Genetics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-020-01075-9⟩
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, ' DLG4-related synaptopathy : a new rare brain disorder ', Genetics in Medicine, vol. 23, no. 5, pp. 888-899 . https://doi.org/10.1038/s41436-020-01075-9Test
Genetics in Medicine, 23(5), 888-899. Lippincott Williams & Wilkins
Genetics in medicine, 23(5), 888-899. Lippincott Williams and Wilkins
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genetics in Medicine. Nature Publishing Group
Genetics in Medicine, 23(5), 888-899. SPRINGERNATURE
Genetics in Medicine, 23, 888-899
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Genetics in Medicine, 23(5), 888-899. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Global developmental delay, Exome, Genetics (clinical), Genetics, Brain Diseases, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Brain, medicine.disease, 030104 developmental biology, Phenotype, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Autism spectrum disorder, Neurodevelopmental Disorders, Synaptopathy, DLG4, Postsynaptic density, Disks Large Homolog 4 Protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0910c06077f7edaab62257149bc8fa36Test
https://hal-normandie-univ.archives-ouvertes.fr/hal-03193180Test

المؤلفون: Wen-Hann Tan, Małgorzata J.M. Nowaczyk, Joseph T. Shieh, Anne Slavotinek, John M. Graham, Lynne M. Bird, David D. Weaver, Laurie H. Seaver, Anne Amemiya, Ghayda Mirzaa, Beth A. Kozel, Jennifer M. Kalish, John C. Carey, Anita E. Beck, Margaret P. Adam, Bryan D. Hall, Philip F Giampietro, Kim M. Keppler-Noreuil, David A. Stevenson, Karen W. Gripp, Robin D. Clark, Mary Beth Dinulos, William B. Dobyns, Pedro A. Sanchez-Lara, Roberta A Pagon, Andrew K. Sobering, Michael J. Bamshad, Fowzan S. Alkuraya, Tiong Yang Tan, Brian H.Y. Chung, Alan F. Rope, Elaine H. Zackai, Marc S. Williams, John J. Mulvihill, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Yuri A. Zarate, Timothy C. Cox, Chad R. Haldeman-Englert, Anne C. Tsai, Ian A. Glass, Cynthia J. Curry, Kenjiro Kosaki, A. Micheil Innes, Katta M. Girisha, Cathy A. Stevens

المصدر: Am J Hum Genet
American journal of human genetics, vol 108, iss 1

مصطلحات موضوعية: 0301 basic medicine, Cystic Fibrosis, Genotype, Computer science, Cystic Fibrosis Transmembrane Conductance Regulator, Disease, Computational biology, 030105 genetics & heredity, Medical and Health Sciences, 03 medical and health sciences, symbols.namesake, Rare Diseases, Genetics, medicine, Humans, Mendelian disorders, Letter to the Editor, Genetics (clinical), Simple (philosophy), Genetics & Heredity, Clinical genomics, Extramural, Genetic disorder, Genetic Diseases, Inborn, Genomics, Biological Sciences, medicine.disease, Inborn, 030104 developmental biology, Phenotype, Genetic Diseases, Perspective, Mutation, Mendelian inheritance, symbols

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e76d16801e57a00cb72962d47706399Test
https://pubmed.ncbi.nlm.nih.gov/34478656Test

المؤلفون: Erin Torti, Felix Marbach, Aida Telegrafi, Evgenia Sklirou, Amber Stocco, Jill A. Rosenfeld, Julian A. Martinez-Agosto, Sophia Ceulemans, Dorothy K. Grange, Rebecca Signer, Chad R. Haldeman-Englert, Olivier Lichtarge, Christian P. Schaaf, Rebecca Willaert, Georgi Stoyanov, Panagiotis Katsonis, Christina G.S. Palmer, Stanley F. Nelson, Richard E. Person, Florian Erger, Marisa V. Andrews, Elena Kessler

مصطلحات موضوعية: Genetics, business.industry, Central nervous system, medicine.disease, Apraxia, Phenotype, Neurodevelopmental disorder, medicine.anatomical_structure, Autism spectrum disorder, Intellectual disability, medicine, Missense mutation, Global developmental delay, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b799bd93f1cea50ae14b2485a81306dcTest
https://doi.org/10.1101/2020.09.10.20190314Test

المؤلفون: Edward Cupler, Fadie D. Altuame, Fowzan S. Alkuraya, Hamad Al-Zaidan, Chad R. Haldeman-Englert, Mais Hashem, Mohammad A. Al Muhaizea

المصدر: American journal of medical genetics. Part AREFERENCES. 185(2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Cardiomyopathy, Klippel–Feil syndrome, Disease, Myosins, Myopathies, Nemaline, Short stature, Young Adult, Nemaline myopathy, Ptosis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Child, Genetics (clinical), Arthrogryposis, business.industry, Tumor Suppressor Proteins, Homozygote, Infant, medicine.disease, Dermatology, Musculoskeletal Abnormalities, Pedigree, Natural history, Phenotype, Klippel-Feil Syndrome, Child, Preschool, Face, Female, medicine.symptom, business, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9caaf2cf5c8cb834ebfed571ee1595f8Test
https://pubmed.ncbi.nlm.nih.gov/33179433Test

المؤلفون: Vishak J. John, Chad R Haldeman-Englert, Sara. V. Branson, Jedediah I. McClintic, Tara H Stamper

المصدر: Ophthalmic Surgery, Lasers and Imaging Retina. 47:183-186

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Usher syndrome, Mutation, Missense, Visual Acuity, Cadherin Related Proteins, Congenital hearing loss, Compound heterozygosity, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, CDH23, Ophthalmology, Retinitis pigmentosa, Electroretinography, otorhinolaryngologic diseases, medicine, Humans, Missense mutation, Genetics, Mutation, business.industry, Cadherins, medicine.disease, eye diseases, 030104 developmental biology, 030221 ophthalmology & optometry, Visual Field Tests, Female, RNA Splice Sites, Visual Fields, medicine.symptom, business, Usher Syndromes, Retinitis Pigmentosa, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7908a17d406bd540c732a644ce62f6e5Test
https://doi.org/10.3928/23258160-20160126-14Test

المؤلفون: Christy Stanley, Jeffrey M. Denney, Chad R. Haldeman-Englert, Lou Ann Armstrong, Jayne Marshall, Bethany Settle

المصدر: Journal of Ultrasound in Medicine. 36:453-455

مصطلحات موضوعية: Pregnancy, medicine.medical_specialty, Radiological and Ultrasound Technology, business.industry, Obstetrics, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, 030220 oncology & carcinogenesis, Fetus in fetu, medicine, Radiology, Nuclear Medicine and imaging, Teratoma, Ultrasonography, Sacrococcygeal teratoma, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c0a5ae44eb7e362e2307751280c53dcTest
https://doi.org/10.7863/ultra.16.02040Test

المؤلفون: Steven H. Abman, Karel Allegaert, Bhawna Arya, David Askenazi, Timur Azhibekov, Stephen A. Back, H. Scott Baldwin, Roberta A. Ballard, Eduardo Bancalari, Carlton M. Bates, Maneesh Batra, Cheryl B. Bayart, Gary A. Bellus, Thomas J. Benedetti, John T. Benjamin, James T. Bennett, Gerard T. Berry, Gil Binenbaum, Markus D. Boos, Maryse Bouchard, Heather A. Brandling-Bennett, Darcy E. Broughton, Zane Brown, Katherine H. Campbell, Suzan L. Carmichael, Brian S. Carter, Stephen Cederbaum, Shilpi Chabra, Justine Chang, Edith Y. Cheng, Karen M. Chisholm, Robert D. Christensen, Terrence Chun, Nelson Claure, Ronald I. Clyman, Tarah T. Colaizy, DonnaMaria E. Cortezzo, C. Michael Cotten, Michael L. Cunningham, Alejandra G. de Alba Campomanes, Ellen Dees, Sara B. DeMauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia, Robert M. DiBlasi, Reed A. Dimmitt, Sara A. DiVall, Orchid Djahangirian, Dan Doherty, Eric C. Eichenwald, Rachel Engen, Cyril Engmann, Jacquelyn R. Evans, Kelly N. Evans, Diana L. Farmer, Patricia Y. Fechner, Patricia Ferrieri, Neil N. Finer, Rachel A. Fleishman, Bobbi Fleiss, Joseph T. Flynn, Katherine T. Flynn-O'Brien, Mark R. Frey, Lydia Furman, Renata C. Gallagher, Estelle B. Gauda, Christine A. Gleason, Michael J. Goldberg, Adam B. Goldin, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Susan H. Guttentag, Chad R. Haldeman-Englert, Thomas N. Hansen, Anne V. Hing, Sangeeta Hingorani, Susan R. Hintz, Shinjiro Hirose, W. Alan Hodson, Kara K. Hoppe, Margaret K. Hostetter, Benjamin Huang, Sarah Bauer Huang, Terrie E. Inder, Cristian Inoita, J. Craig Jackson, Deepak Jain, Lucky Jain, Patrick J. Javid, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Anup Katheria, Benjamin A. Keller, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Ildiko H. Koves, Christina Lam, Erin R. Lane, John D. Lantos, Daniel J. Ledbetter, Ben Lee, Harvey L. Levy, Ofer Levy, Mark B. Lewin, David B. Lewis, P. Ling Lin, Tiffany Fangtse Lin, Scott A. Lorch, Akhil Maheshwari, Emin Maltepe, Ketzela J. Marsh, Richard J. Martin, Dennis E. Mayock, Ryan Michael McAdams, Irene McAleer, Steven J. McElroy, Kera M. McNelis, Patrick McQuillen, William L. Meadow, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Steven P. Miller, Sowmya S. Mohan, Thomas J. Mollen, Thomas R. Moore, Jeffrey C. Murray, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Jeffrey J. Neil, Kathryn D. Ness, Josef Neu, Angel Siu-Ying, Shahab Noori, Lila O'Mahony, Jonathan P. Palma, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Cate Pihoker, Erin Plosa, Brenda B. Poindexter, Michael A. Posencheg, Benjamin E. Reinking, Samuel Rice-Townsend, Morgan K. Richards, C. Peter Richardson, Kelsey Richardson, Kevin M. Riggle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo Sanchez, Matthew A. Saxonhouse, Richard J. Schanler, Mark R. Schleiss, Thomas Scholz, Andrew L. Schwaderer, David Selewski, Zachary M. Sellers, Istvan Seri, Margarett Shnorhavorian, Eric Sibley, Robert Sidbury, Rebecca Simmons, Caitlin Smith, Martha C. Sola-Visner, Lakshmi Srinivasan, Robin H. Steinhorn, David K. Stevenson, Helen Stolp, Craig Taplin, Peter Tarczy-Hornoch, James A. Taylor, Janet A. Thomas, Tracy Thompson, George E. Tiller, Benjamin A. Torres, Christopher Michael Traudt, John N. van den Anker, Margaret M. Vernon, Betty Vohr, Valencia P. Walker, Linda D. Wallen, Matthew B. Wallenstein, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, Laurel Willig, David Woodrum, George A. Woodward, Clyde J. Wright, Jeffrey A. Wright, Karyn Yonekawa, Elaine H. Zackai

المصدر: Avery's Diseases of the Newborn ISBN: 9780323401395

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6586117a138b4783b93ebc7e1ab86739Test
https://doi.org/10.1016/b978-0-323-40139-5.00114-5Test

المؤلفون: Chad R. Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai

المصدر: Avery's Diseases of the Newborn ISBN: 9780323401395

مصطلحات موضوعية: Carrier signal, Pregnancy, medicine.diagnostic_test, business.industry, medicine.disease, Bioinformatics, DNA sequencing, medicine, Medical history, Differential diagnosis, Family history, business, Organ system, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ba3d6aab3c761b4c13081b6c5822e9bfTest
https://doi.org/10.1016/b978-0-323-40139-5.00019-xTest