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المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper
المساهمون: Human Genetics, Amsterdam Cardiovascular Sciences, Human genetics, CCA - Cancer biology and immunology, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Clinical Genetics
المصدر: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007Test
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Pressمصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, ZMYM3, transcriptional coregulators, MESH: Phenotype, MESH: Gene Expression Regulation, MESH: Nervous System Malformations, neurodevelopmental disorder, MESH: Male, MESH: Intellectual Disability, X-linked intellectual disability, chromatin modifiers, MESH: Histone Demethylases, Genetics, MESH: Female, MESH: Face, MESH: Nuclear Proteins, Genetics (clinical), MESH: Neurodevelopmental Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9940ea52913c5bbdc54a98d0f9168154Test
https://pure.amc.nl/en/publications/deleterious-proteinaltering-variants-in-the-transcriptional-coregulator-zmym3-in-27-individuals-with-a-neurodevelopmental-delay-phenotypeTest(b3792507-cf7f-4240-a6b2-5cc40fd0a55c).html -
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المؤلفون: Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J. Carroll
المساهمون: HUS Lasten ja nuorten sairaudet, Clinicum, Lastenneurologian yksikkö
مصطلحات موضوعية: 1184 Genetiikka, kehitysbiologia, fysiologia, Ogdh, Oxoglutarate dehydrogenase, Neurodevelopmental disease, Deficiency, A-ketoglutarate dehydrogenase, Genetics (clinical), Mitochondria
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8223f73bbd5b707e1c5d859eb2bb697eTest
http://hdl.handle.net/10138/356336Test -
3Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
المؤلفون: Kenneth A. Myers, Ebba Alkhunaizi, Michelle M. Morrow, Jiddeke J.P. van de Kamp, Elysa J. Marco, Suma P. Shankar, Harvey B. Sarnat, Marwan Shinawi, Jacqueline L. Steele, Megan Glassford, Colette P. DeFilippo, Tracy Brandt, Amy Waldman, Houda Zghal Elloumi, Holly Dubbs, Ganka Douglas, Sumit Parikh, Kristin G. Monaghan, Cyril Mignot, David Chitayat, Bénédicte Héron, Linda E. Kim, Farrah Rajabi, Shane C. Quinonez, William D. Graf, Mark C. Hannibal, Aravindhan Veerapandiyan
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Steele, J L, Morrow, M M, Sarnat, H B, Alkhunaizi, E, Brandt, T, Chitayat, D A, DeFilippo, C P, Douglas, G V, Dubbs, H A, Elloumi, H Z, Glassford, M R, Hannibal, M C, Héron, B, Kim, L E, Marco, E J, Mignot, C, Monaghan, K G, Myers, K A, Parikh, S, Quinonez, S C, Rajabi, F, Shankar, S P, Shinawi, M S, van de Kamp, J J P, Veerapandiyan, A, Waldman, A T & Graf, W D 2022, ' Semaphorin-Plexin Signaling : From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome ', Pediatric Neurology, vol. 126, pp. 65-73 . https://doi.org/10.1016/j.pediatrneurol.2021.10.008Test
Pediatric Neurology, 126, 65-73. Elsevier Inc.مصطلحات موضوعية: Adult, Male, Adolescent, Autism Spectrum Disorder, X-linked intellectual disability, Genetic counseling, Nerve Tissue Proteins, Receptors, Cell Surface, Semaphorins, Young Adult, Neurodevelopmental disorder, Developmental Neuroscience, Semaphorin, Intellectual Disability, Intellectual disability, Humans, Medicine, Child, Genetic Association Studies, X chromosome, Genetics, biology, business.industry, Plexin, medicine.disease, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Autism, Neurology (clinical), business, Cell Adhesion Molecules, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da65a60f3e1ab2780a3d905dd23f1bdfTest
https://doi.org/10.1016/j.pediatrneurol.2021.10.008Test -
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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/s41436-021-01246-2Testمصطلحات 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 -
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المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C. E. Hurst, Pascal Joset, Stanislav Kmoch, Benjamin R. Leadem, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J. L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine Nowak, Amanda G. Noyes, Matthew Osmond, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Richard M. Myers, Gregory M. Cooper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68bc5998075e24b5d233adf3505f0a1eTest
https://doi.org/10.1101/2022.09.29.22279724Test -
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المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Short stature, Neurodevelopmental disorder, lcsh:R, Behavioral difficulties, EIF3F gene, Altered muscular tone, lcsh:Medicine, Deafness
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doajarticles::a8bd7596c42dae7a22baa103d7e72ac6Test
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cfTest -
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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 -
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المؤلفون: Vladimir G. Gainullin, Francisca Millan, Claire Teigen, Julie Scuffins, Andres Moreno-De-Luca, Kevin J. Arvai, H. Lester Kirchner, Matthew T. Oetjens, Houda Zghal Elloumi, Scott M. Myers, Karen E. Wain, Kyle Retterer, Rebecca I. Torene, Christa Lese Martin, Denis R. Pesacreta, David H. Ledbetter
المصدر: JAMA
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cross-sectional study, 01 natural sciences, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Interquartile range, Exome Sequencing, medicine, Prevalence, Humans, 030212 general & internal medicine, Genetic Testing, 0101 mathematics, Child, Exome sequencing, Genetic testing, Original Investigation, Retrospective Studies, Asphyxia, medicine.diagnostic_test, business.industry, Cerebral Palsy, 010102 general mathematics, Obstetrics and Gynecology, Genetic Variation, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Cross-Sectional Studies, Autism spectrum disorder, Neurodevelopmental Disorders, Child, Preschool, Cohort, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21b972c94b43cf08909e42ac0e8f883Test
https://europepmc.org/articles/PMC7856544Test/ -
9
المؤلفون: Reza Maroofian, Birgit Assmann, Henry Houlden, David Murphy, Tipu Sultan, Mahesh Kamate, Houda Zghal Elloumi, Maria Rosário Almeida, Caroline Neuray, Giacomina Rossi, Sumit Parikh, Javeira Raza Alvi, Isabel Santana, Marcondes C. França, Maria Carmo Macário, Stephanie Efthymiou, Silvana Franceschetti, Matias Wagner, Laura Canafoglia
المصدر: Brain 144:e22 (2021)
مصطلحات موضوعية: Genetics, Phenotype, Homozygote, Mutation, Neurology (clinical), Biology, Allele, Alleles, Early onset
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7165ab3137931fc57dcb8294c1d250e2Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60968Test -
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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. Elsevierمصطلحات 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