المؤلفون: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch

المساهمون: Graduate School, ANS - Neuroinfection & -inflammation, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, VU University medical center, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, HUS Medical Imaging Center, Clinicum, BioMag Laboratory, HUS Children and Adolescents, Kliinisen neurofysiologian yksikkö

المصدر: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2Test
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2Test

مصطلحات موضوعية: Male, INTELLECTUAL DISABILITY, GENES, Language delay, VARIANTS, Biology, Bioinformatics, 3124 Neurology and psychiatry, Article, 12Q24.31, SETD1B, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual disability, medicine, Humans, MICRODELETION, Global developmental delay, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 3112 Neurosciences, RECOGNITION, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Histone-Lysine N-Methyltransferase, medicine.disease, Penetrance, Human genetics, Phenotype, Neurodevelopmental Disorders, MOTIF, Autism, METHYLTRANSFERASE, 3111 Biomedicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e4f87d1b2de6f4ec6880e740ae29d4Test
https://doi.org/10.1038/s41436-021-01246-2Test

المؤلفون: Reshmi Ramakrishnan, Catherine Quindipan, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Mashaya Zaman, Daniela Q.C.M. Barge-Schaapveld, Annalisa Vetro, Stephanie Efthymiou, James R. Lupski, Kara C. Klemp, Zou Pan, Adam Jackson, Marielle E. van Gijn, Joshua Scheck, Marielle Alders, Mariet W. Elting, Karla A. Peña-Guerra, Stephen R. Braddock, Rolph Pfundt, Ivan K. Chinn, Lin Yang, Lauren Schenck, Xiaodong Wang, Melissa Lees, Houda Zghal Elloumi, Shehla Mohammed, Sally Ann Lynch, Henry Houlden, Jennifer Keller-Ramey, Stefan T. Arold, Anneke Kievit, Jefferey McGlothlin, Marjon van Slegtenhorst, Marjolein H. Willemsen, Hannah K. Robinson, Bert B.A. de Vries, Irma Järvelä, Kelly J. Cardona-Londoño, Yolande van Bever, Abeltje M. Polstra, Neda Mazaheri, Barbara W. van Paassen, Maura R.Z. Ruzhnikov, Lewis Pang, Theresa Mihalic Mosher, J. Lawrence Merritt, Jing Peng, Sadegheh Haghshenas, Amy Crunk, Christian Gilissen, Fleur Vansenne, Cacha M.P.C.D. Peeters-Scholte, Richard E. Person, Hamid Galehdari, Leena Lauronen, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Angela Sun, Caroline M. Kehoe, Alexandra Garza-Flores, Julia Baptista, Martino Montomoli, Selina H. Banu, Tahsin Stefan Barakat, Adi Reich, Luis Alberto Pedroza, Laurence E. Walsh, Renzo Guerrini, Ghayda M. Mirzaa, Peter D. Turnpenny, J. Austin Hamm, Xi Lin, Kristina Lanko, Reza Maroofian, Tuomo Määttä, Yana Lara-Taranchenko, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Suzanne M. Leal, Daniel C. Koboldt, Rebecca Baud, Gretchen E. Rosso, Haley McConkey, Matthew A. Deardorff, Marjolein J.A. Weerts, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Kristin G. Monaghan, Isabelle Schrauwen, Bekim Sadikovic, Sanjay M. Sisodiya, Victoria Harrison, Susanne Koning

مصطلحات موضوعية: Genetics, 0303 health sciences, Language delay, Mechanism (biology), Biology, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, medicine, Autism, Global developmental delay, Epigenetics, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::16c8e215afe52e022ad5ae98a3578594Test
https://doi.org/10.1101/2021.02.11.430742Test

المؤلفون: Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, Alexis Brice, Amasi Kumeh, Andrew B. West, Andrew Singleton, Birgitt Schüle, Brian Fiske, Carolin Gabbert, Connie Marras, Cornelis Blauwendraat, Courtney Thaxton, Dario Alessi, David Craig, Edward A. Fon, Emily Forbes, Enza Maria Valente, Esther Sammler, Gill Chao, Giulietta Riboldi, Houda Zghal Elloumi, Ignacio Mata, Jamie C. Fong, Jean-Christophe Corvol, Joshua Shulman, Judith Peterschmitt, Karen Marder, Katja Lohmann, Kelly Nudelman, Lara Lange, Mark R. Cookson, Martha Nance, Matthew Farrer, Melina Grigorian, Michael A. Schwarzschild, Niccolo Mencacci, Owen Ross, Pramod Mistry, Priscila Hodges, Rachel Blake, S. Pablo Sardi, Sali Farhan, Samuel Strom, Shalini Padmanabhan, Shruthi Mohan, Simonne Longerich, Susanne Schneider, Suzanne Lesage, Tanya Bardakjian, Tatiana Foroud, Thomas Courtin, Thomas Tropea, Yunlong Liu, Ziv Gan-Or, Ali S. Shalash, Anne Hall, Avner Thaler, Carolyn M. Sue, Deborah Mascalzoni, Deborah Raymond, Emilia Mabel Gatto, Gian D. Pal, Inke König, Ivana Novakovic, Marcelo Merello, Mehri Salari, Niccolo Emanuele Mencacci, Nobutaka Hattori, Oksana Suchowersky, Soraya Bardien, Sun Ju Chung, Tatyana Simuni, Timothy Lynch, Vincenzo Bonifati

المساهمون: Clinical Genetics

المصدر: Parkinsonism Relat Disord
Parkinsonism and Related Disorders, 92, 107-111. Elsevier

مصطلحات موضوعية: medicine.medical_specialty, Parkinson's disease, Genetic testing, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Multi-gene panels, Genetic Predisposition to Disease, Genetic Testing, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Parkinsonism, PARK7, Neurosciences, Parkinson Disease, medicine.disease, LRRK2, Clinical laboratories, 3. Good health, Neurology, Atypical Parkinsonism, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Dystonic disorder, Laboratories, Clinical, Neurovetenskaper

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795bfd2d4987b04ddddc4b213b2371baTest
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468461Test